Изследване за носителство на генетични заболявания

Помага на родителите да открият генетични рискове навреме и да предотвратят вродени дефекти при поколението.

Първата стъпка към отговорно и спокойно родителство – едно от най-важните неща, които може да направиш докато се подготвяш да станеш родител, е да узнаеш дали си носител на определени генетични заболявания.

Изследването за носителство проверява за потенциални заболявания, които родителите могат да предадат на децата си. Тези генетични заболявания може да предизвикат сериозни здравословни проблеми, да повлияят на умственото развитие или да доведат до по-кратка продължителност на живота.

Изследването може да бъде извършено преди зачатие или по всяко време от бременността.

За да ти помогнем да избереш най-подходящия за теб вариант на изследване, свържи се с нас за консултация и записване на час за изследване!

Какво означава да си носител?

Всеки човек наследява два комплекта хромозоми от родителите си – 23 от майката и 23 от бащата. Много генетични заболявания са рецесивни, което означава, че заболяването се проявява само при унаследяване на два изменени (мутирали) гена, по един от всеки родител. Ако човек има мутация в един от двата комплекта хромозоми, то той е носител на генетичното заболяване.

Един носител има 50% вероятност да предаде същата мутация на детето си. Ако и двамата родители са носители, детето ще има 25% вероятност да унаследи и двете копия на мутацията и в последствие да развие заболяването. Рискът за унаследяване на някои генетични заболявания е по-голям в определени етнически групи и при хора със случаи на генетични заболявания в рода.

Future Parent - унаследяване на рецесивни генетични заболявания

Как генетично изследване за носителство на генетични заболявания може да ми помогне?

Това е обширно генетично изследване за определяне на носителски статус за редица генетични заболявания. То дава надеждна и навременна информация за потенциалните рискове за здравето на бъдещите ти деца.

Скринингът за носителство, извършен преди бременността, ще ти даде възможност за по-широк набор от възможности, съответстващи на твоите ценности, и ще ти предостави повече време за вземане на информирано решение за да предотвратиш вродени дефекти при тях.

  • Изследва за носителство на над 1200 рецесивни генетични заболявания.

  • Може да се извърши както преди зачатие, така и по време на бременността.

  • Подходящо е за бъдещи родители, които искат да разберат дали децата им биха имали риск да унаследят определени генетични заболявания.

  • Подходящо е и за хора от определени етнически групи или при случаи на генетични заболявания в рода и семейството.

  • Изследването и на двамата бъдещи родители едновременно е силно препоръчително, за да се получи по-точна картина на възможните рискове за децата.

Изследвания, които предлагаме

VISTA™ Carrier Screening

Изследването се извършва от лаборатория BGI, водеща генетична лаборатория с клонове в Европа, Китай, САЩ, и други локации.

  • Vista Carrier Screening (1200+) – тест с покритие на 1200 гена

  • Включва изследване и на:

    • Синдром на чупливата Х-хромозома
    • Хемофилия А
  • Цена на изследване за 1 човек: 2000 лв / 1 022,58 €
  • Цена на изследване за двойка: 3598,73 лв / 1840,00 €

Включена консултация с лекар генетик

Към услугата е включена консултация със специалист по медицинска генетика след получаване на резултатите, за да обсъдите в детайл какво означава той и какви стъпки е добре да предприемеш след него, за да предотвратиш вродени дефекти при бъдещите си деца.

Какво включва изследването?

NO. Заболяване Ген
1 Laron dwarfism GHR
2 Congenital Adrenal Hyperplasia due to 11-beta-Hydroxylase-Deficiency CYP11B1
3 Congenital Adrenal Hyperplasia due to 17-alpha Hydroxylase Deficiency CYP17A1
4 2,4-Dienoyl-CoA Reductase Deficiency NADK2
5 2-Methylbutyryl Glycinuria ACADSB
6 3MC Syndrome 1 MASP1
7 3MC Syndrome 2 COLEC11
8 3-M Syndrome 2 OBSL1
9 3-beta-Hydroxysteroid Dehydrogenase Deficiency HSD3B2
10 3-Methylglutaconic Aciduria type 1 AUH
11 3-Methylglutaconic Aciduria type 3 OPA3
12 3-Methylglutaconic Aciduria type 5 DNAJC19
13 3-Methylglutaconic Aciduria type 8 HTRA2
14 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement,And Neutropenia CLPB
15 3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC1
16 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency HMGCS2
17 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL
18 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency HIBCH
19 Pyridoxal 5′-Phosphate-dependent Epilepsy PNPO
20 GM2-gangliosidosis, AB variant GM2A
21 Adams-Oliver Syndrome 2 DOCK6
22 Adams-Oliver Syndrome 4 EOGT
23 Aicardi-Goutieres Syndrome 1 TREX1
24 Aicardi-Goutieres Syndrome 2 RNASEH2B
25 Aicardi-Goutieres Syndrome 3 RNASEH2C
26 Aicardi-Goutieres Syndrome 4 RNASEH2A
27 Aicardi-Goutieres Syndrome 5 SAMHD1
28 Aicardi-Goutieres Syndrome 6 ADAR
29 Al Kaissi syndrome CDK10
30 Alazami Syndrome LARP7
31 Alkuraya-Kucinskas Syndrome BLTP1
32 Allan-Herndon-Dudley syndrome SLC16A2
33 Alstrom Syndrome ALMS1
34 Anauxetic dysplasia 2 POP1
35 Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis POR
36 Arts Syndrome PRPS1
37 Athabaskan Brain Stem Dysgenesis Syndrome HOXA1
38 Baller-Gerold Syndrome RECQL4
39 Bardet-Biedl syndrome 10 BBS10
40 Bardet-Biedl syndrome 12 BBS12
41 Bardet-Biedl syndrome 16 SDCCAG8
42 Bardet-Biedl syndrome 17 LZTFL1
43 Bardet-Biedl syndrome 1 BBS1
44 Bardet-Biedl syndrome 2 BBS2
45 Bardet-Biedl syndrome 3 ARL6
46 Bardet-Biedl syndrome 4 BBS4
47 Bardet-Biedl syndrome 5 BBS5
48 Bardet-Biedl syndrome 7 BBS7
49 Bardet-Biedl syndrome 8 TTC8
50 Bardet-Biedl syndrome 9 BBS9
51 Barth syndrome TAFAZZIN
52 Bartter Syndrome 1 SLC12A1
53 Bartter Syndrome 2 KCNJ1
54 Basel-Vanagait-Smirin-Yosef syndrome MED25
55 BEHR syndrome OPA1
56 BH4-Deficient Hyperphenylalaninemia C QDPR
57 Chondrodysplasia, Blomstrand Type PTH1R
58 Bloom syndrome BLM
59 Borjeson-Forssman-Lehmann syndrome PHF6
60 Boucher-Neuhauser syndrome PNPLA6
61 Brachyolmia Type 4 PAPSS2
62 Brown-Vialetto-Van Laere syndrome 1 SLC52A3
63 Brown-Vialetto-Van Laere syndrome 2 SLC52A2
64 Bruck Syndrome 1 FKBP10
65 Bruck Syndrome 2 PLOD2
66 Brunner syndrome MAOA
67 Burn-Mckeown Syndrome TXNL4A
68 Canavan Disease ASPA
69 Carey-Fineman-Ziter syndrome MYMK
70 Carpenter syndrome 1 RAB23
71 Carpenter Syndrome 2 MEGF8
72 Cerebellar Ataxia, Cayman Type ATCAY
73 Cenani-Lenz Syndactyly Syndrome LRP4
74 Chanarin-Dorfman syndrome ABHD5
75 Charcot-Marie-Tooth disease, Axonal, Type 2A2B MFN2
76 Charcot-Marie-Tooth disease type 3 PRX
77 Charcot-Marie-Tooth disease type 4B1 MTMR2
78 Charcot-Marie-Tooth disease type 4C SH3TC2
79 Charcot-Marie-Tooth disease type 4D NDRG1
80 Chediak-Higashi Syndrome LYST
81 X-Linked Syndromic Mental Retardation, Christianson type SLC9A6
82 Chudley-McCullough Syndrome GPSM2
83 X-Linked Syndromic Mental Retardation, Claes-Jensen type KDM5C
84 COACH syndrome TMEM67, CC2D2A
85 Cockayne Syndrome A ERCC8
86 Cockayne Syndrome B ERCC6
87 CODAS Syndrome LONP1
88 Coffin-Lowry Syndrome RPS6KA3
89 Cohen Syndrome VPS13B
90 Crigler-Najjar syndrome type 1 UGT1A1
91 D,L-2-hydroxyglutaric aciduria SLC25A1
92 D-2-hydroxyglutaric aciduria 1 D2HGDH
93 DCLRE1C-Related Severe Combined Immunodeficiency DCLRE1C
94 Desbuquois Dysplasia 1 CANT1
95 Desbuquois Dysplasia 2 XYLT1
96 Donnai-Barrow syndrome LRP2
97 Dyggve-Melchior-Clausen Disease DYM
98 D-Glyceric Aciduria GLYCTK
99 Ehlers-Danlos Syndrome type VI PLOD1
100 Ehlers-Danlos syndrome type VIIC ADAMTS2
101 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss FKBP14
102 Ellis-van Creveld Syndrome EVC,EVC2
103 Elsahy-Waters syndrome CDH11
104 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT CHRNG
105 Fabry Disease GLA
106 Fanconi-Bickel Syndrome SLC2A2
107 Farber Lipogranulomatosis ASAH1
108 FG Syndrome Type 2 FLNA
109 FG Syndrome Type 4 CASK
110 Filippi Syndrome CKAP2L
111 Frank-ter Haar Syndrome SH3PXD2B
112 Fraser Syndrome 1 FRAS1
113 Fraser syndrome 2 FREM2
114 Fraser syndrome 3 GRIP1
115 X-linked Mental retardation, FRAXE type AFF2
116 GABA-Transaminase Deficiency ABAT
117 Galloway-Mowat Syndrome 1 WDR73
118 Galloway-Mowat syndrome 3 OSGEP
119 Geleophysic dysplasia 1 ADAMTSL2
120 Spondyloepimetaphyseal Dysplasia, Genevieve Type NANS
121 Goldberg-Shprintzen syndrome KIFBP
122 Gracile Syndrome BCS1L
123 Greenberg dysplasia LBR
124 Griscelli Syndrome 2 RAB27A
125 Dopa-Responsive Dystonia GCH1
126 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 CCBE1
127 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 FAT4
128 Hermansky-Pudlak Syndrome 1 HPS1
129 Hermansky-Pudlak Syndrome 3 HPS3
130 Hermansky-Pudlak Syndrome 4 HPS4
131 Hermansky-Pudlak Syndrome 5 HPS5
132 Hermansky-Pudlak Syndrome 6 HPS6
133 Hurler-Scheie Syndrome IDUA
134 Hurler Syndrome IDUA
135 X-linked immunodysregulation, polyendocrinopathy, and enteropathy FOXP3
136 Jalili Syndrome CNNM4
137 Jervell and Lange-Nielsen syndrome 1 KCNQ1
138 Jervell and Lange-Nielsen syndrome 2 KCNE1
139 Johanson-Blizzard Syndrome UBR1
140 Joubert Syndrome 10 OFD1
141 Joubert Syndrome 14 TMEM237
142 Joubert Syndrome 15 CEP41
143 Joubert Syndrome 16 TMEM138
144 Joubert Syndrome 17 CPLANE1
145 Joubert Syndrome 18 TCTN3
146 Joubert Syndrome 1 INPP5E
147 Joubert Syndrome 20 TMEM231
148 Joubert Syndrome 21 CSPP1
149 Joubert Syndrome 24 TCTN2
150 Joubert Syndrome 2 TMEM216
151 Joubert Syndrome 3 AHI1
152 Joubert Syndrome 4 NPHP1
153 Joubert Syndrome 5 CEP290
154 Joubert Syndrome 6 TMEM67
155 Joubert Syndrome 8 ARL13B
156 Joubert Syndrome 9 CC2D2A
157 Kenny-Caffey Syndrome Type 1 TBCE
158 Keutel Syndrome MGP
159 Kindler Syndrome FERMT1
160 Knobloch Syndrome Type I COL18A1
161 Kohlschutter-Tonz Syndrome ROGDI
162 Krabbe Disease GALC
163 L-2-hydroxyglutaric aciduria L2HGDH
164 Lafora Disease EPM2A
165 LAMA3-Related Junctional Epidermolysis Bullosa LAMA3
166 LAMB3-Related Junctional Epidermolysis Bullosa LAMB3
167 LAMC2-Related Junctional Epidermolysis Bullosa LAMC2
168 Leber Congenital Amaurosis 12 RD3
169 Leber Congenital Amaurosis 13 RDH12
170 Leber congenital amaurosis 14 LRAT
171 Leber Congenital Amaurosis 1 GUCY2D
172 Leber Congenital Amaurosis 2 RPE65
173 Leber Congenital Amaurosis 3 SPATA7
174 Leber Congenital Amaurosis 5 LCA5
175 Leber Congenital Amaurosis 8 CRB1
176 Leber Congenital Amaurosis 9 NMNAT1
177 Lesch-Nyhan Syndrome HPRT1
178 LIG4 syndrome LIG4
179 Lowe Syndrome OCRL
180 Lujan-Fryns syndrome MED12
181 Majeed Syndrome LPIN2
182 Marinesco-Sjogren Syndrome SIL1
183 MASA syndrome L1CAM
184 McKusick-Kaufman Syndrome MKKS
185 Meckel syndrome 1 MKS1
186 Meckel Syndrome 2 TMEM216
187 Meckel Syndrome 3 TMEM67
188 Meckel Syndrome 4 CEP290
189 Meckel syndrome 5 RPGRIP1L
190 Neonatal Severe Encephalopathy Due To MECP2 Mutations MECP2
191 Meester-Loeys syndrome BGN
192 Congenital Muscular Dystrophy, Megaconial type CHKB
193 MEHMO syndrome EIF2S3
194 Meier-Gorlin Syndrome 1 ORC1
195 Meier-Gorlin Syndrome 3 ORC6
196 Meier-Gorlin Syndrome 4 CDT1
197 Meier-Gorlin syndrome 7 CDC45
198 Menkes Disease ATP7A
199 Merosin-deficient congenital muscular dystrophy type 1A LAMA2
200 Miller syndrome DHODH
201 Mitchell-Riley syndrome RFX6
202 Mohr-Tranebjaerg syndrome TIMM8A
203 Recurrent Pyogenic Bacterial Infections due to MYD88 Deficiency MYD88
204 X-Linked Syndromic Mental Retardation, Nascimento-type UBE2A
205 Naxos Disease JUP
206 Netherton syndrome SPINK5
207 Neu-Laxova Syndrome 1 PHGDH
208 Neu-Laxova Syndrome 2 PSAT1
209 Niemann-Pick Disease Type A SMPD1
210 Niemann-Pick Disease Type B SMPD1
211 Niemann-Pick Disease Type C1 NPC1
212 Niemann-Pick Disease Type C2 NPC2
213 Norrie Disease NDP
214 N-acetylglutamate synthase deficiency NAGS
215 Ogden Syndrome NAA10
216 Spondyloepiphyseal Dysplasia, Omani type CHST3
217 Omenn syndrome RAG1, RAG2
218 Opitz Gbbb Syndrome, Type I MID1
219 Opsismodysplasia INPPL1
220 PEHO syndrome ZNHIT3
221 Perlman Syndrome DIS3L2
222 Perrault Syndrome 3 CLPP
223 Perrault Syndrome 4 LARS2
224 Peters Plus Syndrome B3GLCT
225 Pierson Syndrome LAMB2
226 Pitt-Hopkins like syndrome 1 CNTNAP2
227 Poretti-Boltshauser syndrome LAMA1
228 Raine Syndrome FAM20C
229 X-Linked Syndromic Mental Retardation, Raymond type ZDHHC9
230 Renpenning syndrome PQBP1
231 Sandhoff Disease HEXB
232 Metachromatic leukodystrophy due to Saposin B deficiency PSAP
233 Schimke Immunoosseous Dysplasia SMARCAL1
234 Schneckenbecken Dysplasia SLC35D1
235 Schwartz-Jampel Syndrome, Type 1 HSPG2
236 Schwartz-Jampel Syndrome, Type 2 LIFR
237 SC Phocomelia Syndrome ESCO2
238 Seckel Syndrome Type 1 ATR
239 Seckel Syndrome Type 2 RBBP8
240 Seckel Syndrome Type 5 CEP152
241 Tyrosine Hydroxylase Deficiency TH
242 Sengers syndrome AGK
243 Senior-Loken Syndrome 4 NPHP4
244 Senior-Loken syndrome 5 IQCB1
245 Senior-Loken Syndrome 8 WDR19
246 Shwachman-Diamond Syndrome SBDS
247 X-linked Mental retardation syndrome, Siderius type PHF8
248 Simpson-Golabi-Behmel Syndrome Type 1 GPC3
249 Sjögren-Larsson syndrome ALDH3A2
250 Smith-Lemli-Opitz syndrome DHCR7
251 Smith-McCort Dysplasia 2 RAB33B
252 Snyder-Robinson mental retardation syndrome SMS
253 Steel Syndrome COL27A1
254 TARP Syndrome RBM10
255 Tay-Sachs Disease HEXA
256 Temtamy Preaxial Brachydactyly Syndrome CHSY1
257 Temtamy Syndrome C12orf57
258 Tenascin-X deficiency type Ehlers-Danlos syndrome TNXB
259 Ullrich congenital muscular dystrophy 1 COL6A1,COL6A2,COL6A3
260 Usher Syndrome Type IB MYO7A
261 Usher Syndrome Type IC USH1C
262 Usher syndrome, type 1D CDH23
263 Usher Syndrome Type IF PCDH15
264 Usher Syndrome Type IG USH1G
265 Usher Syndrome Type IJ CIB2
266 Usher Syndrome Type IIA USH2A
267 Usher Syndrome Type IID WHRN
268 Usher Syndrome Type IIIA CLRN1
269 Van Den Ende-Gupta Syndrome SCARF2
270 Van Maldergem Syndrome 1 DCHS1
271 Vici Syndrome EPG5
272 Factor VII Deficiency F7
273 Factor V deficiency F5
274 Warburg Micro Syndrome 1 RAB3GAP1
275 Warburg Micro Syndrome 2 RAB3GAP2
276 Warburg Micro Syndrome 3 RAB18
277 Wieacker-Wolff Syndrome ZC4H2
278 Wiskott-Aldrich Syndrome 1 WAS
279 Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus EIF2AK3
280 Wolfram Syndrome 1 WFS1
281 Wolfram Syndrome 2 CISD2
282 Woodhouse-Sakati syndrome DCAF17
283 Alport syndrome 1, X-linked COL4A5
284 X-linked Charcot-Marie-Tooth disease 4 AIFM1
285 X-linked Emery-Dreifuss Muscular Dystrophy 1 EMD
286 X-Linked Properdin Deficiency CFP
287 X-Linked Hypophosphatemia PHEX
288 Macular Degeneration, X-Linked Atrophic RPGR
289 X-Linked Myopathy with Excessive Autophagy VMA21
290 X-Linked Lymphoproliferative syndrome 1 SH2D1A
291 X-Linked Lymphoproliferative syndrome 2 XIAP
292 X-linked Chronic Granulomatous Disease CYBB
293 X-Linked Juvenile Retinoschisis RS1
294 X-Linked Hypohidrotic Ectodermal Dysplasia EDA
295 X-Linked Adrenoleukodystrophy ABCD1
296 Myopathy, X-linked, with postural muscle atrophy FHL1
297 X-linked sideroblastic anemia and ataxia ABCB7
298 X-linked Pigmentary disorder, reticulate, with systemic manifestations POLA1
299 X-linked Lissencephaly 1 DCX
300 X-linked Lissencephaly 2 ARX
301 X-Linked Dyskeratosis Congenita DKC1
302 X-Linked Adrenal Hypoplasia Congenita NR0B1
303 X-Linked Ocular Albinism GPR143
304 Spinal muscular atrophy, X-linked 2, infantile UBA1
305 X-linked Mental Retardation NLGN4X
306 X-Linked Mental Retardation 12 THOC2
307 X-Linked Mental Retardation 1 IQSEC2
308 X-Linked Mental Retardation 21 IL1RAPL1
309 X-Linked Mental Retardation 30 PAK3
310 X-Linked Mental Retardation 41 GDI1
311 X-Linked Mental Retardation 49 CLCN4
312 X-Linked Mental Retardation 58 TSPAN7
313 X-Linked Mental Retardation 61 RLIM
314 X-Linked Mental Retardation 72 RAB39B
315 X-Linked Mental Retardation 90 DLG3
316 X-Linked Mental Retardation 93 BRWD3
317 X-Linked Mental Retardation 96 SYP
318 X-Linked Mental Retardation 97 ZNF711
319 X-Linked Mental Retardation 98 NEXMIF
320 X-Linked Mental Retardation 99 USP9X
321 X-Linked Mental Retardation 9 FTSJ1
322 X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance OPHN1
323 X-Linked Mental Retardation-Hypotonic Facies Syndrome 1 ATRX
324 X-Linked Centronuclear Myopathy MTM1
325 X-Linked Severe Combined Immunodeficiency IL2RG
326 X-Linked Syndromic Mental Retardation 14 UPF3B
327 X-Linked Syndromic Mental Retardation 15 CUL4B
328 X-Linked Syndromic Mental Retardation 35 RPL10
329 X-Linked Syndromic Mental Retardation 5 AP1S2
330 You-Hoover-Fong syndrome TELO2
331 Yunis-Varon Syndrome FIG4
332 Alpha1-Antitrypsin Deficiency SERPINA1
333 Alpha-N-acetylgalactosaminidase deficiency NAGA
334 Alpha-thalassemia HBA1, HBA2
335 Alpha-Mannosidosis MAN2B1
336 Beta-thalassemia HBB
337 Beta-Mannosidosis MANBA
338 Beta-Ureidopropionase Deficiency UPB1
339 Beta-Ketothiolase Deficiency ACAT1
340 Carbamoylphosphate Synthetase I Deficiency CPS1
341 Prolidase deficiency PEPD
342 Interleukin 1 Receptor Antagonist Deficiency IL1RN
343 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,sensorineural hearing loss, and skeletal dysplasia IARS2
344 Cataract 18 FYCO1
345 Cataract 40 NHS
346 Leukocyte Adhesion Deficiency type 1 ITGB2
347 Leukocyte Adhesion Deficiency type 3 FERMT3
348 Galactokinase Deficiency GALK1
349 Galactosialidosis CTSA
350 Galactosemia GALT
351 Sudden Infant Death With Dysgenesis Of The Testes Syndrome TSPYL1
352 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures B3GALT6
353 Bowen-Conradi Syndrome EMG1
354 Phenylketonuria PAH
355 Bifid Nose With Or Without Anorectal And Renal Anomalies FREM1
356 Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38
357 Pyridoxine-Dependent Epilepsy ALDH7A1
358 Epidermolytic hyperkeratosis KRT10
359 Malonyl-Coa Decarboxylase Deficiency MLYCD
360 Propionicacidemia PCCA, PCCB
361 Pyruvate kinase deficiency PKLR
362 Pyruvate Carboxylase Deficiency PC
363 Pyruvate dehydrogenase E1-alpha deficiency PDHA1
364 Pyruvate Dehydrogenase E1-Beta Deficiency PDHB
365 Pyruvate Dehydrogenase Phosphatase Deficiency PDP1
366 Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency LIAS
367 C1q deficiency C1QA,C1QB,C1QC
368 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy CD55
369 Complement Factor I Deficiency CFI
370 Epimerase Deficiency Galactosemia GALE
371 Hypomagnesemia 1, intestinal TRPM6
372 Common Variable Immune Deficiency 1 ICOS
373 Common Variable Immune Deficiency 2 TNFRSF13B
374 Common Variable Immune Deficiency 6 CD81
375 Common Variable Immune Deficiency 8 with Autoimmunity LRBA
376 Autosomal Spastic paraplegia 30 KIF1A
377 Autosomal Dyskeratosis Congenita 5/4 RTEL1
378 Alport syndrome 2, autosomal recessive COL4A3, COL4A4
379 Autosomal Recessive Robinow Syndrome ROR2
380 Autosomal Recessive T Cell-Negative、B Cell-Positive、NK Cell-Negative Severe Combined Immunodeficiency JAK3
381 Autosomal Recessive Persistent Hyperplastic Primary Vitreous ATOH7
382 Autosomal Recessive Epidermolysis Bullosa Simplex 1 KRT14,KRT5
383 Autosomal recessive Thrombophilia due to protein C deficiency PROC
384 Autosomal recessive Thrombophilia due to protein S deficiency PROS1
385 Autosomal Recessive Deafness 1A GJB2
386 Autosomal Recessive Deafness 3 MYO15A
387 Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct SLC26A4
388 Autosomal Recessive Deafness 7 TMC1
389 Autosomal Recessive Deafness 8/10 TMPRSS3
390 Autosomal Recessive Deafness 9 OTOF
391 Autosomal Recessive Osteopetrosis 1 TCIRG1
392 Autosomal Recessive Osteopetrosis 2 TNFSF11
393 Autosomal Recessive Osteopetrosis 3 CA2
394 Autosomal Recessive Osteopetrosis 4 CLCN7
395 Autosomal Recessive Osteopetrosis 5 OSTM1
396 Autosomal Recessive Osteopetrosis 7 TNFRSF11A
397 Autosomal Recessive Spinocerebellar Ataxia 10 ANO10
398 Autosomal Recessive Spinocerebellar Ataxia 13 GRM1
399 Autosomal Recessive Spinocerebellar Ataxia 16 STUB1
400 Autosomal Recessive Spinocerebellar Ataxia 1 SETX
401 Autosomal Recessive Spinocerebellar ataxia 20 SNX14
402 Autosomal Recessive Spinocerebellar ataxia 21 SCYL1
403 Autosomal Recessive Spinocerebellar Ataxia 2 PMPCA
404 Autosomal Recessive Spastic Paraplegia type 11 SPG11
405 Autosomal Recessive Spastic paraplegia 15 ZFYVE26
406 Autosomal Recessive Spastic paraplegia 23 DSTYK
407 Autosomal Recessive Spastic paraplegia 26 B4GALNT1
408 Autosomal Recessive Spastic paraplegia 35 FA2H
409 Autosomal Recessive Spastic paraplegia 45 NT5C2
410 Autosomal Recessive Spastic paraplegia 46 GBA2
411 Autosomal Recessive Spastic paraplegia 47 AP4B1
412 Autosomal Recessive Spastic paraplegia 50 AP4M1
413 Autosomal Recessive Spastic paraplegia 52 AP4S1
414 Autosomal Recessive Spastic paraplegia 53 VPS37A
415 Autosomal Recessive Spastic paraplegia 54 DDHD2
416 Autosomal Recessive Spastic paraplegia 56 CYP2U1
417 Autosomal Recessive Spastic Paraplegia 9B ALDH18A1
418 Autosomal Recessive Cutis Laxa type 1A FBLN5
419 Autosomal Recessive Cutis Laxa type 1B EFEMP2
420 Autosomal Recessive Cutis Laxa type 1C LTBP4
421 Autosomal Recessive Cutis Laxa type 2A ATP6V0A2
422 Autosomal Recessive Cutis Laxa type 2B PYCR1
423 Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I NCF1
424 Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type II NCF2
425 Autosomal Recessive Cytochrome B-Negative Chronic Granulomatous Disease CYBA
426 Autosomal Recessive Myotonia Congenita CLCN1
427 Autosomal Recessive Dyskeratosis Congenita 3 WRAP53
428 Autosomal Recessive Microcephaly And Chorioretinopathy 1 TUBGCP6
429 Autosomal Recessive Microcephaly And Chorioretinopathy 3 TUBGCP4
430 Autosomal Recessive Spastic Ataxia 8 with Hypomyelinating Leukodystrophy NKX6-2
431 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay SACS
432 Autosomal Recessive Congenital Ichthyosis 1 TGM1
433 Autosomal Recessive Congenital Ichthyosis 4A ABCA12
434 Autosomal Recessive Congenital Ichthyosis 4B ABCA12
435 Autosomal Recessive Congenital Ichthyosis 5 CYP4F22
436 Autosomal Recessive Congenital Ichthyosis 6 NIPAL4
437 Autosomal Recessive Congenital Ichthyosis 9 CERS3
438 Autosomal Recessive Epidermolysis Bullosa Dystrophica COL7A1
439 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 HPGD
440 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MED23
441 Intellectual developmental disorder, autosomal recessive 27 LINS1
442 Intellectual developmental disorder, autosomal recessive 38 HERC2
443 Intellectual developmental disorder, autosomal recessive 57 MBOAT7
444 Autosomal Recessive Mental Retardation 13 TRAPPC9
445 Autosomal Recessive Mental Retardation 15 MAN1B1
446 Autosomal Recessive Mental Retardation 36 ADAT3
447 Autosomal Recessive Mental Retardation 39 TTI2
448 Autosomal Recessive Mental Retardation 3 CC2D1A
449 Autosomal Recessive Mental Retardation 41 KPTN
450 Autosomal Recessive Mental Retardation 42 PGAP1
451 Autosomal Recessive Mental Retardation 44 METTL23
452 Autosomal Recessive Mental Retardation 49 GPT2
453 Autosomal Recessive Mental Retardation 58 ELP2
454 Autosomal Recessive Mental Retardation 5 NSUN2
455 Autosomal Recessive Mental Retardation 7 TUSC3
456 Severe combined immunodeficiency, B cell-negative RAG1, RAG2
457 Osteogenesis Imperfecta type XV WNT1
458 Osteogenesis Imperfecta type VI SERPINF1
459 Osteogenesis Imperfecta type VIII P3H1
460 Osteogenesis imperfecta, type X SERPINH1
461 Achalasia-Addisonianism-Alacrima Syndrome AAAS
462 Postnatal Progressive Microcephaly With Seizures And Brain Atrophy MED17
463 Hemorrhagic Destruction of the Brain, Subependymal Calcification and Cataracts JAM3
464 Adrenocorticotropic hormone Deficiency TBX19
465 Neurodegeneration due to Cerebral Folate Transport Deficiency FOLR1
466 Epidermolysis Bullosa with Pyloric Atresia ITGB4,ITGA6
467 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis(MACS syndrome) RIN2
468 Band-Like Calcification with Simplified Gyration and Polymicrogyria OCLN
469 Band heterotopia EML1
470 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
471 Leukodystrophy, hypomyelinating, 2 GJC2
472 HSD10 mitochondrial disease HSD17B10
473 D-bifunctional protein deficiency HSD17B4
474 Autosomal Recessive Distal Spinal Muscular Atrophy 1 IGHMBP2
475 Donohue Syndrome INSR
476 Gillespie syndrome, Autosomal recessive ITPR1
477 PERCHING syndrome KLHL7
478 Familial Lecithin cholesterol acyltransferase deficiency LCAT
479 Lysosomal acid lipase deficiency LIPA
480 Congenital Hydrocephalus 2 with or without brain or eye anomalies MPDZ
481 Hypertrophic Neuropathy of Dejerine Sottas MPZ
482 Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1
483 myoclonic epilepsy of Lafora NHLRC1
484 Insensitivity to pain, congenital, with anhidrosis NTRK1
485 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome PIGL
486 Plasminogen deficiency, type I PLG
487 Microcephaly, seizures, and developmental delay PNKP
488 OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR POMC
489 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) SLC19A3
490 Autosomal Recessive Spastic paraplegia 20 SPART
491 Salt and pepper developmental regression syndrome, Autosomal recessive ST3GAL5
492 Gastrointestinal defects and immunodeficiency syndrome TTC7A
493 Kaufman oculocerebrofacial syndrome UBE3B
494 Epidermolysis bullosa simplex with pyloric atresia PLEC
495 Isolated Microphthalmia 8 ALDH1A3
496 Monocarboxylate Transporter 1 Deficiency SLC16A1
497 Proteasome-Associated Autoinflammatory Syndrome 1 PSMB8
498 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) ANOS1
499 Hypomyelinating Leukodystrophy 10 PYCR2
500 Hypomyelinating Leukodystrophy 12 VPS11
501 Hypomyelinating Leukodystrophy 14 UFM1
502 Hypomyelinating Leukodystrophy 3 AIMP1
503 Hypomyelinating Leukodystrophy 4 HSPD1
504 Hypomyelinating Leukodystrophy 5 HYCC1
505 Hypomyelinating Leukodystrophy 7 with or without oligodontia and/or hypogonadotropic hypogonadism POLR3A
506 Hypomyelinating Leukodystrophy 8 POLR3B
507 Epilepsy, Hearing Loss, And Mental Retardation Syndrome AFG2A
508 Epilepsy with Variable Learning Disabilities and Behavior Disorders SYN1
509 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome KCNJ10
510 Arterial tortuosity syndrome SLC2A10
511 Short-Rib Thoracic Dysplasia 14 With Polydactyly KIAA0586
512 Short-rib throacic dysplasia 15 with polydactyly DYNC2LI1
513 Short-rib thoracic dysplasia 10 with or without polydactyly IFT172
514 Short-rib thoracic dysplasia 11 with or without polydactyly DYNC2I2
515 Short-rib thoracic dysplasia 13 with or without polydactyly CEP120
516 Short-rib thoracic dysplasia 2 with or without polydactyly IFT80
517 Short-rib thoracic dysplasia 3 with or without polydactyly DYNC2H1
518 Short-rib thoracic dysplasia 4 with or without polydactyly TTC21B
519 Short-rib thoracic dysplasia 6 with or without polydactyly NEK1
520 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35
521 Short-rib thoracic dysplasia 8 with or without polydactyly DYNC2I1
522 Short-rib thoracic dysplasia 9 with or without polydactyly IFT140
523 Short Stature, Microcephaly, And Endocrine Dysfunction XRCC4
524 Multicentric Osteolysis, Nodulosis, and Arthropathy MMP2
525 Multiple Sulfatase Deficiency SUMF1
526 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 PIGN
527 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 PIGT
528 Multiple Pterygium Syndrome,lethal type CHRNA1
529 Polycystic Kidney Disease 4 with or without Polycystic Liver Disease PKHD1
530 Multiminicore disease RYR1
531 Multisystem Autoimmune Disease With Facial Dysmorphism ITCH
532 Multiple mitochondrial dysfunctions syndrome 1 NFU1
533 Multiple mitochondrial dysfunctions syndrome 2 BOLA3
534 Multiple mitochondrial dysfunctions syndrome 3 IBA57
535 Multiple mitochondrial dysfunctions syndrome 4 ISCA2
536 Polymicrogyria with Seizures RTTN
537 Catecholaminergic Polymorphic Ventricular Tachycardia 2 CASQ2
538 Catecholaminergic Polymorphic Ventricular Tachycardia 5, with or without muscle weakness TRDN
539 Childhood-Onset Polyarteritis Nodosa ADA2
540 Hypophosphatasia, childhood ALPL
541 Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy SQSTM1
542 Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair DPH1
543 GAPO Syndrome ANTXR1
544 Leigh Syndrome, French-Canadian Type LRPPRC
545 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration TANGO2
546 Fanconi anemia, complementation group A FANCA
547 Fanconi anemia, complementation group B FANCB
548 Fanconi anemia, complementation group C FANCC
549 Fanconi anemia, complementation group D2 FANCD2
550 Fanconi anemia, complementation group E FANCE
551 Fanconi anemia, complementation group F FANCF
552 Fanconi anemia, complementation group G FANCG
553 Fanconi anemia, complementation group I FANCI
554 Fanconi anemia, complementation group L FANCL
555 Fanconi anemia, complementation group Q ERCC4
556 Fanconi anemia, complementation group T UBE2T
557 Non-Herlitz type Junctional Epidermolysis Bullosa COL17A1
558 Nonphotosensitive Trichothiodystrophy 4 MPLKIP
559 Pulmonary Surfactant Metabolism Dysfunction 1 SFTPB
560 Pulmonary Surfactant Metabolism Dysfunction 3 ABCA3
561 Pulmonary Venoocclusive Disease 2 EIF2AK4
562 Maple Syrup Urine Disease Type 1A BCKDHA
563 Maple Syrup Urine Disease Type 1B BCKDHB
564 Maple Syrup Urine Disease, type 2 DBT
565 Maple Syrup Urine Disease Type 3 DLD
566 Combined Oxidative Phosphorylation Deficiency 10 MTO1
567 Combined Oxidative Phosphorylation Deficiency 11 RMND1
568 Combined Oxidative Phosphorylation Deficiency 12 EARS2
569 Combined Oxidative Phosphorylation Deficiency 14 FARS2
570 Combined Oxidative Phosphorylation Deficiency 15 MTFMT
571 Combined Oxidative Phosphorylation Deficiency 17 ELAC2
572 Combined Oxidative Phosphorylation Deficiency 1 GFM1
573 Combined Oxidative Phosphorylation Deficiency 20 VARS2
574 Combined Oxidative Phosphorylation Deficiency 23 GTPBP3
575 Combined Oxidative Phosphorylation Deficiency 24 NARS2
576 Combined Oxidative Phosphorylation Deficiency 27 CARS2
577 Combined Oxidative Phosphorylation Deficiency 35 TRIT1
578 Combined Oxidative Phosphorylation Deficiency 3 TSFM
579 Combined Oxidative Phosphorylation Deficiency 4 TUFM
580 Combined Oxidative Phosphorylation Deficiency 7 MTRFR
581 Combined Oxidative Phosphorylation Deficiency 8 AARS2
582 Diarrhea 5 With Congenital Tufting Enteropathy EPCAM
583 Diarrhea 7 DGAT1
584 Diarrhea with Microvillus Atrophy 2 MYO5B
585 Glycine encephalopathy AMT, GLDC
586 Glycerol Kinase Deficiency GK
587 Nemaline Myopathy 10 LMOD3
588 Nemaline Myopathy 1 TPM3
589 Nemaline Myopathy 2 NEB
590 Nemaline Myopathy 5 TNNT1
591 Nemaline Myopathy 7 CFL2
592 Nemaline Myopathy 8 KLHL40
593 Nemaline Myopathy 9 KLHL41
594 Wilson Disease ATP7B
595 Hepatic Veno-Occlusive Disease with Immunodeficiency SP110
596 Hyper IgE Syndrome DOCK8
597 Homocystinuria-Megaloblastic Anemia cblG type MTR
598 Hyperphosphatasia with Mental Retardation Syndrome 1 PIGV
599 Hyperphosphatasia with Mental Retardation Syndrome 2 PIGO
600 Hyperphosphatasia with Mental Retardation Syndrome 3 PGAP2
601 Hyperphosphatasia with Mental Retardation Syndrome 4 PGAP3
602 Hypermanganesemia With Dystonia 1 SLC30A10
603 Hypermanganesemia with dystonia 2 SLC39A14
604 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome SLC25A15
605 Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis syndrome SARS2
606 Hyperprolinemia type I PRODH
607 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase CYB5R3
608 Ataxia with oculomotor apraxia type 1 APTX
609 Ataxia with vitamin E deficiency TTPA
610 Ataxia-Telangiectasia-Like Disorder 1 MRE11
611 Ataxia-telangiectasia ATM
612 Microphthalmia, isolated 3 RAX
613 Glutamate Formiminotransferase Deficiency FTCD
614 Sitosterolemia ABCG5, ABCG8
615 Glutathione synthetase deficiency GSS
616 Bone marrow failure syndrome 2 ERCC6L2
617 Bone marrow failure syndrome 3 DNAJC21
618 Sclerosteosis 1 SOST
619 Osteoporosis-pseudoglioma syndrome LRP5
620 Citrullinemia ASS1
621 Cerebral creatine deficiency syndrome 2 GAMT
622 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 VPS33B
623 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2 VIPAS39
624 Arthrogryposis, Mental Retardation and Seizures SLC35A3
625 Photosensitive Trichothiodystrophy 3 GTF2H5
626 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency CBS
627 Fructose 1,6 Bisphosphatase Deficiency FBP1
628 Peroxisome biogenesis disorder 10A PEX3
629 Peroxisome biogenesis disorder 11A PEX13
630 Peroxisome Biogenesis Disorder 14B PEX11B
631 Peroxisome biogenesis disorder 1A(Zellweger) PEX1
632 Peroxisome biogenesis disorder 2A PEX5
633 Peroxisome biogenesis disorder 3A(Zellweger) PEX12
634 Peroxisome biogenesis disorder 4A PEX6
635 Peroxisome biogenesis disorder 5A PEX2
636 Peroxisome biogenesis disorder 6A(Zellweger) PEX10
637 Peroxisome biogenesis disorder 7A PEX26
638 Peroxisome biogenesis disorder 8A(Zellweger) PEX16
639 Peroxisomal Acyl-CoA oxidase deficiency ACOX1
640 Treacher Collins Syndrome 3 POLR1C
641 Ataxia, posterior column, with retinitis pigmentosa FLVCR1
642 Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1
643 Warsaw Breakage Syndrome DDX11
644 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency FLAD1
645 Myopathy, lactic acidosis, and sideroblastic anemia 1 PUS1
646 Myopathy, Lactic acidosis, and Sideroblastic anemia 2 YARS2
647 Myopathy With Extrapyramidal Signs MICU1
648 Mulibrey nanism TRIM37
649 Ehlers-Danlos Syndrome, Musculocontractural type 1 CHST14
650 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 CRPPA
651 Myofibrillar Myopathy 7 KY
652 Myofibrillar Myopathy 8 PYROXD1
653 Acyl-CoA Dehydrogenase Deficiency,Very Long-Chain ACADVL
654 Acute Recurrent Myoglobinuria LPIN1
655 Spinal Muscular Atrophy SMN1
656 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia NKX3-2
657 Spondylocarpotarsal Synostosis Syndrome FLNB
658 Spondyloocular syndrome XYLT2
659 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy PCYT1A
660 Spondylocostal dysostosis 1 DLL3
661 Spondylocostal dysostosis 2 MESP2
662 Spondylocostal dysostosis 4 HES7
663 Familial Mediterranean Fever MEFV
664 Familial Cirrhosis KRT8
665 Hypercholesterolemia, familial,1 LDLR
666 Familial Hyperinsulinemic Hypoglycemia 1 ABCC8
667 Familial Hyperinsulinemic Hypoglycemia 2 KCNJ11
668 Familial Hyperinsulinemic Hypoglycemia 4 HADH
669 Familial Chloride Diarrhea SLC26A3
670 Familial Candidiasis 2 CARD9
671 Hemophagocytic lymphohistiocytosis, familial, 2 PRF1
672 Hemophagocytic lymphohistiocytosis, familial, 3 UNC13D
673 Hemophagocytic lymphohistiocytosis, familial, 4 STX11
674 Hemophagocytic lymphohistiocytosis, familial, 5 STXBP2
675 Familial Normophosphatemic Tumoral Calcinosis SAMD9
676 MCEE-Related Methylmalonic Acidemia MCEE
677 Methylmalonic aciduria and homocystinuria CblF type LMBRD1
678 Methylmalonic aciduria and homocysteinemia, cblX type HCFC1
679 MMAA-Related Methylmalonic Acidemia MMAA
680 MMAB-Related Methylmalonic Acidemia MMAB
681 MUT-Related Methylmalonic Acidemia MMUT
682 Methylmalonic Aciduria and Homocystinuria cblC type MMACHC
683 Methylmalonic Aciduria and Homocystinuria cblD type MMADHC
684 Mevalonic Aciduria MVK
685 Thyroid dyshormonogenesis 5 DUOXA2
686 Thyroid dyshormonogenesis 6 DUOX2
687 Pseudohypoaldosteronism, type I SCNN1A,SCNN1B
688 Interstitial lung and liver disease MARS1
689 Omodysplasia 1 GPC6
690 Brittle Cornea Syndrome 1 ZNF469
691 Brittle Cornea Syndrome 2 PRDM5
692 Progressive Myoclonic Epilepsy 1A CSTB
693 Progressive Myoclonic Epilepsy 1B PRICKLE1
694 Progressive Myoclonic Epilepsy 3 KCTD7
695 Progressive Myoclonic Epilepsy 4 SCARB2
696 Progressive Myoclonic Epilepsy 6 GOSR2
697 Progressive Familial Intrahepatic Cholestasis 1 ATP8B1
698 Progressive Familial Intrahepatic Cholestasis 2 ABCB11
699 Progressive Familial Intrahepatic Cholestasis 3 ABCB4
700 Progressive Familial Intrahepatic Cholestasis 4 TJP2
701 Duchenne Muscular Dystrophy DMD
702 Progressive Pseudorheumatoid Dysplasia CCN6
703 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy NAXE
704 Proximal Renal Tubular Acidosis with Ocular Abnormalities SLC4A4
705 Argininosuccinic aciduria ASL
706 Cerebral creatine deficiency syndrome 3 GATM
707 Argininemia ARG1
708 Spastic Ataxia 2 KIF1C
709 Spastic Ataxia 3 MARS2
710 Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures HACE1
711 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 MLC1
712 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A HEPACAM
713 Giant Axonal Neuropathy-1 GAN
714 Orofaciodigital syndrome XVI TMEM107
715 Orofaciodigital Syndrome V DDX59
716 Dilated Cardiomyopathy With Woolly Hair And Keratoderma DSP
717 Lysinuric Protein Intolerance SLC7A7
718 Familial Dysautonomia ELP1
719 Geroderma Osteodysplasticum GORAB
720 Tyrosinemia Type 1 FAH
721 Tyrosinemia Type II TAT
722 Tyrosinemia Type III HPD
723 CK Syndrome NSDHL
724 Refsum disease PHYH
725 Ehlers-Danlos syndrome, spondylodysplastic type, 1 B4GALT7
726 Cold-induced Sweating Syndrome 1 CRLF1
727 Cold-induced Sweating Syndrome 2 CLCF1
728 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MTHFD1
729 Combined pituitary hormone deficiency 1 POU1F1
730 Combined pituitary hormone deficiency 2 PROP1
731 Combined pituitary hormone deficiency 3 LHX3
732 Sickle Cell Anemia HBB
733 Desmosterolosis DHCR24
734 Split-Hand/Foot Malformation 6 WNT10B
735 Lymphoproliferative Syndrome 1 ITK
736 Lymphoproliferative Syndrome 2 CD27
737 Triosephosphate Isomerase Deficiency TPI1
738 Phosphoglycerate Kinase Deficiency PGK1
739 Phosphoserine Phosphatase Deficiency PSPH
740 Thiamine-Responsive Megaloblastic Anemia Syndrome SLC19A2
741 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) SLC25A19
742 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy type) TPK1
743 Sulfocysteinuria SUOX
744 Craniolenticulosutural Dysplasia SEC23A
745 Craniofrontonasal syndrome EFNB1
746 Craniosynostosis and Dental Anomalies IL11RA
747 Cranioectodermal Dysplasia 1 IFT122
748 Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation syndrome TMCO1
749 Bare lymphocyte syndrome, type II, complementation group A CIITA
750 Bare lymphocyte syndrome, type II, complementation group B RFXANK
751 Bare lymphocyte syndrome, type II, complementation group D RFXAP
752 Chronic Atrial And Intestinal Dysrhythmia SGO1
753 Trichohepatoenteric syndrome 1 SKIC3
754 Trichohepatoenteric Syndrome 2 SKIC2
755 Ichthyosis Follicularis-Atrichia-Photophobia Syndrome MBTPS2
756 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy QARS1
757 Immunoskeletal dysplasia with neurodevelopmental abnormalities EXTL3
758 Immunodeficiency with Hyper-IgM, type 1 CD40LG
759 Immunodeficiency with Hyper-IgM, type 3 CD40
760 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DNMT3B
761 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 ZBTB24
762 Immunodeficiency 10 STIM1
763 Immunodeficiency 11A CARD11
764 Immunodeficiency 12 MALT1
765 Immunodeficiency 15B IKBKB
766 Immunodeficiency 19 CD3D
767 Immunodeficiency 23 PGM3
768 Immunodeficiency 24 CTPS1
769 Immunodeficiency 27A IFNGR1
770 Immunodeficiency 28 IFNGR2
771 Immunodeficiency 31B STAT1
772 Immunodeficiency 35 TYK2
773 Immunodeficiency 40 DOCK2
774 Immunodeficiency 42 RORC
775 Immunodeficiency 47 ATP6AP1
776 Immunodeficiency 48 ZAP70
777 Immunodeficiency 51 IL17RA
778 Immunodeficiency 52 LAT
779 Immunodeficiency 54 MCM4
780 Immunodeficiency 9 ORAI1
781 Arthrogryposis, distal, with impaired proprioception and touch PIEZO2
782 Dopa-responsive dystonia due to sepiapterin reductase deficiency SPR
783 Molybdenum cofactor deficiency C GPHN
784 Molybdenum Cofactor Deficiency A MOCS1
785 Molybdenum Cofactor Deficiency Complementation Group B MOCS2
786 Nijmegen breakage syndrome, NBN
787 Nijmegen Breakage Syndrome-like Disorder RAD50
788 Cystic Leukoencephalopathy without Megalencephaly RNASET2
789 Cystic Fibrosis CFTR
790 Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome SNAP29
791 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation DARS2
792 Hypomyelination with brainstem and spinal cord involvement and leg spasticity DARS1
793 Cerebral Creatine Deficiency Syndrome 1 SLC6A8
794 Hydrolethalus Syndrome 1 HYLS1
795 Hydrolethalus Syndrome 2 KIF7
796 Cerebrotendinous xanthomatosis CYP27A1
797 Pontocerebellar hypoplasia type 10 CLP1
798 Pontocerebellar hypoplasia type 11 TBC1D23
799 Pontocerebellar hypoplasia type 1A VRK1
800 Pontocerebellar Hypoplasia type 1B EXOSC3
801 Pontocerebellar Hypoplasia, Type 1C EXOSC8
802 Pontocerebellar hypoplasia type 2A TSEN54
803 Pontocerebellar hypoplasia type 2B TSEN2
804 Pontocerebellar Hypoplasia type 2D SEPSECS
805 Pontocerebellar Hypoplasia, Type 2E VPS53
806 Pontocerebellar hypoplasia type 6 RARS2
807 Pontocerebellar hypoplasia, type 7 TOE1
808 Pontocerebellar hypoplasia type 9 AMPD2
809 Cerebroretinal Microangiopathy With Calcifications And Cysts CTC1
810 Ventriculomegaly With Cystic Kidney Disease CRB2
811 Periventricular Nodular Heterotopia 2 ARFGEF2
812 Cerebrooculofacioskeletal Syndrome 2 ERCC2
813 Visceral Heterotaxy 1 ZIC3
814 Visceral Heterotaxy 7 MMP21
815 Mucopolysaccharidosis type VII GUSB
816 Mucopolysaccharidosis Type IIIA SGSH
817 Mucopolysaccharidosis Type IIIB NAGLU
818 Mucopolysaccharidosis type IIIC HGSNAT
819 Mucopolysaccharidosis type IIID GNS
820 Mucopolysaccharidosis II IDS
821 Mucopolysaccharidosis type IVA GALNS
822 Mucopolysaccharidosis type IVB GLB1
823 Mucopolysaccharidosis type VI ARSB
824 Mucopolysaccharidosis type V IDUA
825 Ornithine Transcarbamylase Deficiency OTC
826 Urofacial Syndrome 1 HPSE2
827 Urofacial Syndrome 2 LRIG2
828 Parkinson Disease 15 FBXO7
829 Parkinson Disease 19 DNAJC6
830 Pelizaeus-Merzbacher disease PLP1
831 Poikiloderma with Neutropenia USB1
832 Purine Nucleoside Phosphorylase Deficiency PNP
833 Horizontal gaze palsy with progressive scoliosis 1 ROBO3
834 Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency RBCK1
835 Mosaic variegated aneuploidy syndrome 1 BUB1B
836 Rigid Spine Muscular Dystrophy 1 SELENON
837 Juvenile Paget Disease TNFRSF11B
838 Primary Lateral Sclerosis, Juvenile ALS2
839 Mild non-BH4-deficient Hyperphenylalaninemia DNAJC12
840 Achromatopsia 2 CNGA3
841 Achromatopsia 4 GNAT2
842 Achromatopsia 7 ATF6
843 Hyaline fibromatosis syndrome ANTXR2
844 Holocarboxylase synthetase deficiency HLCS
845 Carnitine Palmitoyltransferase I Deficiency CPT1A
846 Carnitine Palmitoyltransferase II Deficiency CPT2
847 Carnitine-Acylcarnitine Translocase Deficiency SLC25A20
848 Chylomicron Retention Disease SAR1B
849 Cartilage-hair hypoplasia RMRP
850 Achondrogenesis type 1A TRIP11
851 Achondrogenesis type 1B SLC26A2
852 Trifunctional Protein Deficiency HADHA,HADHB
853 Trimethylaminuria FMO3
854 Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly NBAS
855 Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis POC1A
856 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PLAA
857 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PRUNE1
858 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures WDR45B
859 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy PIGG
860 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy VARS1
861 Neurodegeneration with brain iron accumulation 1 PANK2
862 Neurodegeneration with brain iron accumulation 2B PLA2G6
863 Neurodegeneration with brain iron accumulation 4(Mitochondrial Membrane Protein-Associated Neurodegeneration) C19orf12
864 Neuronal Ceroid-Lipofuscinoses 1 PPT1
865 Neuronal Ceroid-Lipofuscinoses 2 TPP1
866 Neuronal Ceroid-Lipofuscinoses 3 CLN3
867 Neuronal Ceroid-Lipofuscinoses 4A CLN6
868 Neuronal Ceroid-Lipofuscinoses 5 CLN5
869 Neuronal Ceroid-Lipofuscinoses 6 CLN6
870 Neuronal Ceroid-Lipofuscinoses 7 MFSD8
871 Neuronal Ceroid-Lipofuscinoses 10 CTSD
872 Neuronal Ceroid Lipofuscinosis 8 CLN8
873 Nephropathic Cystinosis CTNS
874 Nephrotic Syndrome Type 11 NUP107
875 Nephrotic Syndrome Type 12 NUP93
876 Nephrotic Syndrome Type 14 SGPL1
877 Nephrotic syndrome, type 1 NPHS1
878 Nephrotic Syndrome Type 2 NPHS2
879 Nephrotic Syndrome Type 3 PLCE1
880 Nephrotic Syndrome Type 7 DGKE
881 Nephrotic Syndrome Type 9 COQ8B
882 Nephronophthisis 11 TMEM67
883 Nephronophthisis 16 ANKS6
884 Nephronophthisis 19 DCDC2
885 Nephronophthisis 20 MAPKBP1
886 Nephronophthisis 2 INVS
887 Nephronophthisis 3 NPHP3
888 Nephronophthisis-Like Nephropathy 1 XPNPEP3
889 Renal-Hepatic-Pancreatic Dysplasia 2 NEK8
890 Renal tubular dysgenesis ACE,AGT,REN
891 Diabetes insipidus, nephrogenic, 2 AQP2
892 Hypomagnesemia 5, renal, with ocular involvement CLDN19
893 Biotinidase Deficiency BTD
894 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy IARS1
895 Growth Retardation, Developmental Delay, Facial Dysmorphism FTO
896 Septooptic Dysplasia HESX1
897 Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures RTN4IP1
898 Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis IGFBP7
899 Retinitis pigmentosa 14 TULP1
900 Retinitis pigmentosa 59 DHDDS
901 Retinitis pigmentosa 77 REEP6
902 Retinitis pigmentosa with or without skeletal anomalies CWC27
903 Retinal dystrophy with macular staphyloma CFAP410
904 Cone-rod dystrophy AIPL1
905 Cone-Rod Dystrophy 10 SEMA4A
906 Cone-Rod Dystrophy 3 ABCA4
907 Spondylometaepiphyseal Dysplasia, Short Limb-Hand type DDR2
908 bilateral frontoparietal polymicrogyria ADGRG1
909 Hyperphenylalaninemia, BH4-deficient, A PTS
910 Limb pelvis hypoplasia aplasia syndrome WNT7A
911 Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly SLC1A4
912 Leukodystrophy, hypomyelinating, 9 RARS1
913 Fetal akinesia deformation sequence 2 RAPSN
914 Meconium Ileus GUCY2C
915 Glycosylphosphatidylinositol Biosynthesis Defect 15 GPAA1
916 Glucocorticoid Deficiency 1 MC2R
917 Glucocorticoid Deficiency 2 MRAP
918 Glucocorticoid Deficiency 4 NNT
919 Glycogen Storage Disease Type Ia G6PC
920 Glycogen Storage Disease Type Ib SLC37A4
921 Glycogen Storage Disease Type Ic SLC37A4
922 Glycogen Storage Disease Type II GAA
923 Glycogen Storage Disease type IV GBE1
924 Glycogen Storage Disease type III AGL
925 Glycogen storage disease type IXa1/IXa2 PHKA2
926 Glycogen storage disease type IXb PHKB
927 Glycogen storage disease type IXc PHKG2
928 Glycogen storage disease type IXd PHKA1
929 Glycogen Storage Disease type VII PFKM
930 Glycogen Storage Disease type VI PYGL
931 Glycogen Storage Disease type V PYGM
932 Glycogen Storage Disease type XIV PGM1
933 Isolated growth hormone deficiency type III BTK
934 Intellectual developmental disorder, X-linked, Turner type HUWE1
935 Aspartylglucosaminuria AGA
936 Asparagine Synthetase Deficiency ASNS
937 Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers,And Developmental Delay TRNT1
938 Homocystinuria-megaloblastic anemia cblE type MTRR
939 Diaphanospondylodysostosis BMPER
940 Encephalopathy, Progressive, With Or Without Lipodystrophy BSCL2
941 Sialidosis NEU1
942 Ectodermal dysplasia, Ectrodactyly, and macular dystrophy Syndrome CDH3
943 Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth type EDAR
944 Ectodermal dysplasia and immunodeficiency 1 IKBKG
945 Lathosterolosis SC5D
946 Reticular Dysgenesis AK2
947 Epilepsy, early-onset, vitamin B6-dependent PLPBP
948 Vitamin D-dependent rickets Type IA CYP27B1
949 Vitamin K-dependent clotting factors, combined deficiency of, 2 VKORC1
950 Abetalipoproteinemia MTTP
951 Alacrima, Achalasia, And Mental Retardation Syndrome GMPPA
952 Lissencephaly 4 NDE1
953 Lissencephaly 5 LAMB1
954 Lissencephaly 6 KATNB1
955 Lissencephaly 8 TMTC3
956 Acheiropody LMBR1
957 Atransferrinemia TF
958 Chorea-Acanthocytosis VPS13A
959 Glutaric acidemia IIA ETFA
960 Glutaric acidemia IIB ETFB
961 Glutaric acidemia IIC ETFDH
962 Glutaric Acidemia I GCDH
963 Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 1 SCO2
964 Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 2 COX15
965 Congenital Diarrhea 8, Secretory Sodium SLC9A3
966 Congenital Cataracts, Hearing Loss, And Neurodegeneration SLC33A1
967 Congenital Bile Acid Synthesis Defect 1 HSD3B7
968 Congenital Bile Acid Synthesis Defect 2 AKR1D1
969 Congenital Bile Acid Synthesis Defect 3 CYP7B1
970 Congenital short bowel syndrome(CLMP) CLMP
971 Multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGA
972 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect LGI4
973 Hypothyroidism Congenital Nongoitrous 1 TSHR
974 Hypothyroidism Congenital Nongoitrous 4 TSHB
975 Congenital Dyserythropoietic Anemia Type II SEC23B
976 Congenital Myasthenic Syndrome 10 DOK7
977 Congenital Myasthenic Syndrome 13 DPAGT1
978 Congenital Myasthenic Syndrome 14 ALG2
979 Congenital Myasthenic Syndrome 20 SLC5A7
980 Congenital Myasthenic Syndrome 3B, fast-channel CHRND
981 Congenital Myasthenic Syndrome 4A, slow-channel CHRNE
982 Congenital Myasthenic Syndrome 5 COLQ
983 Congenital Myasthenic Syndrome 6 CHAT
984 Congenital Myasthenic Syndrome 9 MUSK
985 Muscular dystrophy, congenital, with cataracts and intellectual disability INPP5K
986 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 10 RXYLT1
987 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 11 B3GALNT2
988 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 12 POMK
989 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A1 POMT1
990 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 2 POMT2
991 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 3 POMGNT1
992 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 4 FKTN
993 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 5 FKRP
994 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 6 LARGE1
995 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A 8 POMGNT2
996 Congenital Stationary Night Blindness, Type 1A NYX
997 Congenital Stationary Night Blindness, Type 1E GPR179
998 Congenital Stationary Night Blindness, Type 2B CABP4
999 Congenital Sodium Diarrhea SPINT2
1000 Congenital Hydrocephalus 1 CCDC88C
1001 Congenital Prothrombin Deficiency F2
1002 Lipodystrophy, congenital generalized, type 4 CAVIN1
1003 Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete CYP11A1
1004 Congenital Disorders of Glycosylation Ia PMM2
1005 Congenital Disorders of Glycosylation Ib MPI
1006 Congenital Disorders of Glycosylation Ic ALG6
1007 Congenital Disorders of Glycosylation Id ALG3
1008 Congenital Disorders of Glycosylation Ig ALG12
1009 Congenital Disorders of Glycosylation Ih ALG8
1010 Congenital Disorders of Glycosylation Ik ALG1
1011 Congenital Disorders of Glycosylation Il ALG9
1012 Congenital Disorders of Glycosylation Im DOLK
1013 Congenital Disorders of Glycosylation In RFT1
1014 Congenital Disorders of Glycosylation Ip ALG11
1015 Congenital Disorders of Glycosylation Iq SRD5A3
1016 Congenital Disorders of Glycosylation Iv NGLY1
1017 Congenital Disorders of Glycosylation Iy SSR4
1018 Congenital Disorders of Glycosylation IIa MGAT2
1019 Congenital Disorders of Glycosylation IIe COG7
1020 Congenital Disorders of Glycosylation IIk TMEM165
1021 Congenital Disorders of Glycosylation IIl COG6
1022 Congenital Disorders of Glycosylation Iin SLC39A8
1023 Congenital Disorders of Glycosylation Iio CCDC115
1024 Congenital Insensitivity to Pain SCN9A
1025 Congenital alopecia and T-Cell Immunodeficiency and nail dystrophy FOXN1
1026 Congenital Amegakaryocytic Thrombocytopenia MPL
1027 Congenital Afibrinogenemia FGA,FGB,FGG
1028 Congenital fiber-type disproportion myopathy ACTA1
1029 Congenital Thrombotic thrombocytopenic purpura ADAMTS13
1030 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome PRG4
1031 Fibrochondrogenesis 1 COL11A1
1032 Fibrochondrogenesis 2 COL11A2
1033 Mitochondrial DNA depletion syndrome 11 MGME1
1034 Mitochondrial DNA depletion syndrome 13 FBXL4
1035 Mitochondrial DNA depletion syndrome 1 TYMP
1036 Mitochondrial DNA depletion syndrome 2 TK2
1037 Mitochondrial DNA depletion syndrome 3 DGUOK
1038 Mitochondrial DNA depletion syndrome 4A POLG
1039 Mitochondrial DNA depletion syndrome 5 SUCLA2
1040 Mitochondrial DNA depletion syndrome 6 MPV17
1041 Mitochondrial DNA depletion syndrome 7 TWNK
1042 Mitochondrial DNA depletion syndrome 8A/8B RRM2B
1043 Mitochondrial DNA depletion syndrome 9 SUCLG1
1044 Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency ECHS1
1045 Mitochondrial complex I deficiency, nuclear type 1 NDUFS4
1046 Mitochondrial complex I deficiency, nuclear type 10 NDUFAF2
1047 Mitochondrial complex I deficiency, nuclear type 12 NDUFA1
1048 Mitochondrial complex I deficiency, nuclear type 14 NDUFA11
1049 Mitochondrial complex I deficiency, nuclear type 16 NDUFAF5
1050 Mitochondrial complex I deficiency, nuclear type 17 NDUFAF6
1051 Mitochondrial complex I deficiency, nuclear type 19 FOXRED1
1052 Mitochondrial complex I deficiency, nuclear type 21 NUBPL
1053 Mitochondrial complex I deficiency, nuclear type 22 NDUFA10
1054 Mitochondrial complex I deficiency, nuclear type 4 NDUFV1
1055 Mitochondrial complex I deficiency, nuclear type 5 NDUFS1
1056 Mitochondrial complex I deficiency, nuclear type 6 NDUFS2
1057 Mitochondrial complex I deficiency, nuclear type 7 NDUFV2
1058 Mitochondrial complex I deficiency, nuclear type 9 NDUFS6
1059 Mitochondrial complex I deficiency, nuclear type 2 NDUFS8
1060 Mitochondrial complex I deficiency, nuclear type 3 NDUFS7
1061 Mitochondrial complex II deficiency, nuclear type 2 SDHAF1
1062 Mitochondrial complex IV deficiency, nuclear type 1 SURF1
1063 Mitochondrial complex IV deficiency, nuclear type 3 COX10
1064 Mitochondrial complex III deficiency nuclear type 2 TTC19
1065 Mitochondrial complex III deficiency nuclear type 4 UQCRQ
1066 Mitochondrial complex III deficiency nuclear type 5 UQCRC2
1067 Mitochondrial complex III deficiency nuclear type 8 LYRM7
1068 Mitochondrial complex IV deficiency, nuclear type 11 COX20
1069 Mitochondrial complex IV deficiency, nuclear type 12 PET100
1070 Mitochondrial complex IV deficiency, nuclear type 17 COA8
1071 Mitochondrial complex I deficiency, nuclear type 20 ACAD9
1072 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 TMEM70
1073 Mitochondrial Neurodevelopmental disorder with abnormal movements and lactic acidosis with or without seizures WARS2
1074 Adenylosuccinase Deficiency ADSL
1075 Adenosine Deaminase Deficiency ADA
1076 Infantile Transient Liver Failure TRMU
1077 Cerebellofaciodental Syndrome BRF1
1078 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 VLDLR
1079 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 WDR81
1080 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 ATP8A2
1081 Microcephalic Osteodysplastic Primordial Dwarfism, Type I RNU4ATAC
1082 Microcephalic Osteodysplastic Primordial Dwarfism, Type II PCNT
1083 Microcephaly,Short Stature, And Limb Abnormalities DONSON
1084 Microcephaly, Seizures, Spasticity, And Brain Calcifications PCDH12
1085 Microcephaly, Epilepsy, and Diabetes Syndrome IER3IP1
1086 Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 TRMT10A
1087 Microcephaly-Capillary Malformation Syndrome STAMBP
1088 Microphthalmia with coloboma 3 VSX2
1089 Acrodermatitis Enteropathica, Zinc-Deficiency Type SLC39A4
1090 Neonatal Bartter syndrome type 4A with sensorineural deafness BSND
1091 Citrullinemia, Type II, Neonatal-Onset SLC25A13
1092 Neonatal Diabetes Mellitus with Congenital Hypothyroidism GLIS3
1093 Neonatal Severe Hyperparathyroidism CASR
1094 Lethal Neonatal Rigidity and Multifocal Seizure Syndrome BRAT1
1095 Hemochromatosis, type 2A HJV
1096 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease ARPC1B
1097 Homocystinuria due to MTHFR deficiency MTHFR
1098 Moyamoya disease 6 with or without achalasia GUCY1A1
1099 Fumarase Deficiency FH
1100 Severe Congenital Neutropenia, Autosomal Recessive,3 HAX1
1101 Severe Congenital Neutropenia, Autosomal Recessive,4 G6PC3
1102 Severe Congenital Neutropenia, Autosomal Recessive,5 VPS45
1103 Severe Congenital Neutropenia, Autosomal Recessive,6 JAGN1
1104 Fucosidosis FUCA1
1105 Inflammatory Bowel Disease 28 IL10RA
1106 Oculocutaneous Albinism Type 1 TYR
1107 Oculocutaneous Albinism Type 2 OCA2
1108 Oculocutaneous Albinism Type 3 TYRP1
1109 Oculocutaneous Albinism Type 4 SLC45A2
1110 Oculocutaneous Albinism Type 6 SLC24A5
1111 Oculocutaneous Albinism Type 7 LRMDA
1112 Anterior segement dysgenesis 2 FOXE3
1113 Anterior segement dysgenesis 7 PXDN
1114 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy STRADA
1115 Insulin-Like Growth Factor I, Resistance to IGF1R
1116 Hereditary Sensory and Autonomic Neuropathy type IIB RETREG1
1117 Hereditary Sensory and Autonomic Neuropathy type II WNK1
1118 Hereditary Sensory and Autonomic Neuropathy type V NGF
1119 Hereditary Sensory and Autonomic Neuropathy type VIII PRDM12
1120 Hereditary Fructose Intolerance ALDOB
1121 Hereditary Hyperekplexia 3 SLC6A5
1122 Hereditary 4 ATAD1
1123 Hemochromatosis type 2B HAMP
1124 Hereditary Folate Malabsorption SLC46A1
1125 Hereditary Motor And Sensory Neuropathy type VIB SLC25A46
1126 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum SLC12A6
1127 Ethylmalonic Encephalopathy ETHE1
1128 Hemophilia B F9
1129 Isobutyryl-CoA dehydrogenase deficiency ACAD8
1130 Metachromatic Leukodystrophy due to Arylsulfatase A ARSA
1131 Isovaleric Acidemia IVD
1132 Infantile liver failure syndrome 1 LARS1
1133 Striatonigral Degeneration, Infantile NUP62
1134 Hypophosphatasia, infantile ALPL
1135 Generalized Arterial Calcification of Infancy 2 ABCC6
1136 Hypotonia, Infantile, With Psychomotor Retardation And Characteristic facies 1 NALCN
1137 Hypotonia, Infantile, With Psychomotor Retardation And Characteristic facies 2 UNC80
1138 Hypotonia, Infantile, With Psychomotor Retardation And Characteristic facies 3 TBCK
1139 Infantile Parkinsonism-Dystonia SLC6A3
1140 Infantile Sudden cardiac failure PPA2
1141 Free sialic acid storage disease, infantile form SLC17A5
1142 Infantile Cerebellar-Retinal Degeneration ACO2
1143 Right Atrial Isomerism GDF1
1144 Primary Autosomal Recessive Microcephaly 10 ZNF335
1145 Primary Autosomal Recessive Microcephaly 15 MFSD2A
1146 Primary Autosomal Recessive Microcephaly 17 CIT
1147 Primary Autosomal Recessive Microcephaly 1 MCPH1
1148 Primary Autosomal Recessive Microcephaly 20 KIF14
1149 Primary Autosomal Recessive Microcephaly 2, With Or Without Corticalmalformations WDR62
1150 Primary Autosomal Recessive Microcephaly 3 CDK5RAP2
1151 Primary Autosomal Recessive Microcephaly 4 KNL1
1152 Primary Autosomal Recessive Microcephaly 5 ASPM
1153 Primary Autosomal Recessive Microcephaly 6 CENPJ
1154 Primary Autosomal Recessive Microcephaly 7 STIL
1155 Primary Coenzyme Q10 deficiency 1 COQ2
1156 Primary Coenzyme Q10 deficiency 4 COQ8A
1157 Primary Coenzyme Q10 deficiency 6 COQ6
1158 Primary Coenzyme Q10 deficiency 7 COQ4
1159 Primary Hyperoxaluria Type I AGXT
1160 Primary Open Angle Glaucoma 3A CYP1B1
1161 Primary Carnitine Deficiency SLC22A5
1162 Distal Arthrogryposis type 5D ECEL1
1163 Distal Renal Tubular Acidosis with Hemolytic Anemia SLC4A1
1164 Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia MEGF10
1165 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum TBCD
1166 Early Infantile Epileptic Encephalopathy 16 TBC1D24
1167 Early Infantile Epileptic Encephalopathy 25 SLC13A5
1168 Early Infantile Epileptic Encephalopathy 28 WWOX
1169 Early Infantile Epileptic Encephalopathy 34 SLC12A5
1170 Early Infantile Epileptic Encephalopathy 37 FRRS1L
1171 Early Infantile Epileptic Encephalopathy 38 ARV1
1172 Early Infantile Epileptic Encephalopathy 3 SLC25A22
1173 Early Infantile Epileptic Encephalopathy 44 UBA5
1174 Early Infantile Epileptic Encephalopathy 48 AP3B2
1175 Early Infantile Epileptic Encephalopathy 49 DENND5A
1176 Early Infantile Epileptic Encephalopathy 8 ARHGEF9
1177 Early Infantile Epileptic Encephalopathy 9 PCDH19
1178 Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome FLVCR2
1179 Mucolipidosis III Alpha&Beta GNPTAB
1180 Mucolipidosis III Gamma GNPTG
1181 Mucolipidosis IV MCOLN1
1182 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency HADHA
1183 Xeroderma Pigmentosum Group A XPA
1184 Xeroderma Pigmentosum Group C XPC
1185 Xeroderma Pigmentosum Group G ERCC5
1186 Cortical Malformations, Occipital LAMC3
1187 Branched-chain Ketoacid Dehydrogenase Kinase Deficiency BCKDK
1188 Limb-Girdle Muscular Dystrophy type 2A CAPN3
1189 Limb-Girdle Muscular Dystrophy type 2B DYSF
1190 Limb-Girdle Muscular Dystrophy type 2C SGCG
1191 Limb-Girdle Muscular Dystrophy type 2D SGCA
1192 Limb-Girdle Muscular Dystrophy type 2E SGCB
1193 Limb-Girdle Muscular Dystrophy type 2F SGCD
1194 Limb-Girdle Muscular Dystrophy type 2G TCAP
1195 Limb-Girdle Muscular Dystrophy type 2H TRIM32
1196 Limb-Girdle Muscular Dystrophy type 2S TRAPPC11
1197 Limb-Girdle Muscular Dystrophy type 2T GMPPB
1198 Acromesomelic dysplasia 1 NPR2
1199 Acromesomelic dysplasia 2A GDF5
1200 Acromesomelic dysplasia 3 BMPR1B
1201 Rhizomelic Chondrodysplasia Punctata type 1 PEX7
1202 Rhizomelic Chondrodysplasia Punctata type 2 GNPAT
1203 Rhizomelic chondrodysplasia punctata, type 3 AGPS
1204 Lipoyltransferase 1 deficiency LIPT1
1205 Lipoid Congenital Adrenal Hyperplasia STAR
1206 Pycnodysostosis CTSK
1207 Lethal Arthrogryposis With Anterior Horn Cell Disease GLE1
1208 Popliteal Pterygium Syndrome, Lethal Type RIPK4
1209 Lethal congenital contracture syndrome 11 GLDN
1210 Lethal Congenital Contracture Syndrome 2 ERBB3
1211 Lethal Congenital Contracture Syndrome 3 PIP5K1C
1212 Lethal Congenital Contracture Syndrome 7 CNTNAP1
1213 Lethal Restrictive Dermopathy LMNA,ZMPSTE24
1214 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies OTUD6B
1215 Intellectual developmental disorder with cardiac arrhythmia GNB5
1216 Acyl-CoA Dehydrogenase Deficiency,Medium-Chain ACADM
1217 Foveal Hypoplasia 2 SLC38A8
1218 Centronuclear Myopathy 2 BIN1
1219 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation NHEJ1
1220 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive IL7R
1221 Transcobalamin II Deficiency TCN2
1222 Transaldolase Deficiency TALDO1
1223 Autoimmune Polyendocrine Syndrome Type 1 AIRE
1224 Syndromic Microphthalmia 12 RARB
1225 Microphthalmia, syndromic 9 STRA6
1226 Histiocytosis-lymphadenopathy plus syndrome SLC29A3
1227 Hypoplastic Left Heart Syndrome 1 GJA1
1228 Aromatic L-Amino Acid Decarboxylase Deficiency DDC
1229 Orofaciodigital Syndrome XIV C2CD3
1230 Cone-Rod Dystrophy 16 CFAP418
1231 3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1
1232 3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2
1233 Gitelman syndrome SLC12A3
1234 Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
1235 Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS
1236 Achromatopsia 3 CNGB3
Избери твоята услуга

1. Избери твоето изследване

Свтржи се с нас за предварителна консултация, ако имаш нужда от съвет кое е най-подходящото изследване за теб от тези, които предлагаме. Препоръката се определя на база на това дали има наличие на генетично заболяване в рода ти, неговия вид, дали имаш родствена близост с партньора си и др.

Вземи ДНК материал

2. Взимане на ДНК материал

За изследването са необходими 5ml кръв.

ДНК анализ в сертифицирана лаборатория

3. ДНК анализ в сертифицирана лаборатория

Взетата проба ще бъде изпратена до сертифицираната лаборатория BGI. Твоят резултат ще е готов в рамките на 25-30 работни дни.

Анализ на резултата

4. Анализ на резултата

Лекар, специалист по медицинска генетика, ще изготви подробен анализ на твоя резултат с цел да получиш максимално точни, актуални и приложими решения.

Генетична консултация

5. Консултация

Твоята услуга включва и консултация на живо или дистанционно с лекаря генетик, който е анализирал резултата ти.

За да ти помогнем да избереш най-подходящия за теб вариант на изследване, свържи се с нас за консултация и записване на час за изследване!