No son los únicos, de hecho podemos secuenciar y estudiar CUALQUIER gen de cualquier paciente. Pero con los siguientes podemos diagnosticar la mayoría de las enfermedades raras menos infrecuentes:
------ A ------
• AAAS
Triple-A syndrome (Allgrove syndrome, Achalasia-Addisonianism-Alacrima)
• ABCA12
Harlequin ichthyosis (HI), Lamellar ichthyosis, type 2 (LI-2)
• ABCA4
Stargardt Disease, Cone Rod Dystrophy Autosomal Recessive Retinitis Pigmentosa
• ABCC6
Pseudoxanthoma Elasticum (PXE)
• ABHD5 (CGI-58)
Chanarin-Dorfman syndrome (Neutral lipid storage disease with ichthyosis, NLSD)
• ACAD8
Isobutyryl-CoA Dehydrogenase Deficiency
• ACADM
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• ACADS
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• ACADSB
Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency NEW!
• ACADVL
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
• ACAT1
ß-Ketothiolase Deficiency
• ACTA1
Nemaline myopathy
• ACTC
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• ADA
ADA Severe Combined Immunodeficiency, Autosomal Recessive (ADA SCID), Adenosine Deaminase Deficiency
• AICDA
Immunodeficiency Syndrome with Hyper IgM, Type 2
• AIPL1
Autosomal Recessive Leber Congenital Amaurosis
• AIRE
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED), Autoimmune Polyglandular Syndrome
• ALDH3A2 (ALDH10; FALDH)
Sj�gren-Larsson syndrome (SLS)
• ALOX12B
Congenital recessive ichthyosis (erythrodermic type; Non-bullous congenital ichthyosiform erthroderma; NBCIE), Collodion baby
• ALOXE3
Congenital recessive ichthyosis (erythrodermic type; Non-bullous congenital ichthyosiform erthroderma; NBCIE), Collodion baby
• ANK2
Long QT syndrome NEW: Available!
• AR
Androgen insensitivity syndrome, Testicular feminization syndrome
• ARSE
X-linked recessive chondrodysplasia punctata NEW: Includes Deletion Testing!
• ASS1
Classic Citrullinemia NEW!
• ATP2A2
Darier disease (DD)
• ATP2C1
Hailey-Hailey disease (HHD; familial benign chronic pemphigus)
• AutismDx: Diagnostic Autism Panels (PTEN, MECP2, CDKL5,
GenomeDx microarray)
Non-syndromic Autism, Autism spectrum disorders
------ B ------
• BCOR OculoFacioCardioDental Syndrome (OFCD) / Lenz Microphthalmia Syndrome (LMS)
• BEST1
Best vitelliform macular dystrophy (Best disease), Bestrophinopathy, autosomal recessive, Vitreoretinochoroidopathy, autosomal dominant, Foveomacular vitelliform dystrophy, adult-onset NEW!
Retinitis pigmentos, autosomal dominant NEW!
• BLM Bloom Syndrome NEW!
• BRAF
Cardio-facio-cutaneous (CFC) syndrome NEW: NEW 8 Gene Panel!
• BTD
Biotinidase Deficiency
• BTK
X-linked Agammaglobulinemia (Bruton type agammaglobulinemia) NEW: Includes Deletion Testing!
------ C ------
• C1INH (SERPING)
Hereditary angioedema NEW: Includes Deletion Testing!
• CACNA1C, CAV3
Long QT syndrome NEW: Available!
• CASP10, CASP8
Autoimmune Lymphoproliferative Syndrome (ALPS) Type IIA and IIB
• CASR
Familial hypocalciuric hypercalcemia, Neonatal severe primary hyperparathyroidism; Hypocalcemia (autosomal dominant), Familial isolated hypoparathyroidism
• CAV3
Hypertrophic Cardiomyopathy
• CBS
Homocystinuria due to Cystathionine β-Synthase Deficiency
• CDK4
Familial cutaneous malignant melanoma (FAMMM, Familial multiple mole and melanoma syndrome)
• CDKL5 (STK9)
Rett syndrome, Atypical Rett syndrome, Non-syndromic Autism, X-linked infantile spasm syndrome-2
• CDKN2A
Familial cutaneous malignant melanoma (FAMMM, Familial multiple mole and melanoma syndrome)
• CHD7
CHARGE Syndrome
• CHM
Choroideremia
• CEP290
Autosomal Recessive Leber Congenital Amaurosis
• CIAS1
Muckle-Wells syndrome, Familial cold urticaria syndrome, NOMID/CINCA Syndrome
• CLCN5
Dent disease, X-linked nephrolithiasis
• COH1
Cohen syndrome
• COL17A1
Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB)
• COL4A5
Alport Syndrome
• COL7A1
Epidermolysis bullosa, dystrophic type (Dystrophic epidermolysis bullosa; DEB)
• COMP
Multiple epiphyseal dysplasia (MED), Pseudoachondroplasia (PSACH)
• CPT2
Carnitine Palmitoyltransferase II (CPT2) Deficiency
• CRB1
Autosomal Recessive Leber Congenital Amaurosis, Autosomal Recessive Retinitis Pigmentosa
• CRB1
Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
• CREBBP (CREB-binding protein)
Rubinstein-Taybi syndrome NEW: Includes Deletion Testing!
• CRX
Autosomal Dominant Leber Congenital Amaurosis, Autosomal Dominant Retinitis Pigmentosa, Cone Rod Dystrophy
• CYBA
Chronic granulomatous disease (autosomal recessive)
• CYBB
Chronic granulomatous disease (X-linked)
• CYP1B1
Primary congenital glaucoma, primary open angle glaucoma, juvenile open glaucoma
• CYP19A1
Aromatase Deficiency, Pseudohermaphroditism
• CYP27B1
Hypophosphatemic rickets (autosomal dominant); Pseudo-vitamin D deficiency rickets (autosomal recessive)
------ D ------
• DCLRE1C (ARTEMIS)
Severe combined immunodeficiency (autosomal recessive), Omenn syndrome NEW: Includes Deletion Testing!
• DHCR7
Smith-Lemli-Opitz syndrome
• DKC1
Dyskeratosis congenita (DKC)
• DMP1
Autosomal Recessive Hypophosphatemic Rickets (ARHR)
------ E ------
• EDA1
Hypo-/Anhidrotic ectodermal dysplasia (X-linked)
• EDAR
Hypohidrotic ectodermal dysplasia (autosomal recessive); Hypohidrotic ectodermal dypslasia (autosomal dominant)
• EFNB1
Craniofrontonasal syndrome (CFNS)
• ELANE (ELA2)
Severe congenital neutropenia,
Cyclic neutropenia NEW 7 Gene Panel!
• ELN
Supravalvular Aortic Stenosis, Autosomal Dominant Cutis Laxa and Williams-Beuren syndrome NEW!
• ETFA, ETFB and ETFDH
Glutaric Aciduria II (GAII)/ Multiple Acyl-Coa Dehydrogenase Deficiency (MADD)
• EXT1
Hereditary multiple exostoses (HME) NEW: Includes Deletion Testing!
• EXT2
Hereditary multiple exostoses (HME) NEW: Includes Deletion Testing!
• EYA1
Branchiootorenal Syndrome, Branchiootic Syndrome
• EYS
Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
------ F ------
• F12
Hereditary angioedema NEW: Includes Deletion Testing!
• FAH
Tyrosinemia Type I NEW!
• FGF23
Hypophosphatemic rickets (autosomal dominant); Pseudo-vitamin D deficiency rickets (autosomal recessive)
• FGFR1
Kallmann Syndrome
• FLCN (BHD)
Birt-Hogg-Dube syndrome; Primary spontaneous pneumothorax
• FH (fumarate hydratase; fumarase)
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• FLG (Profilaggrin)
Ichthyosis vulgaris (IV), with or without associated atopic dermatitis
• FOXC1
Axenfeld-Rieger Syndrome, Rieger Syndrome
• FZD4
Familial Exudative Vitreoretinopathy (FEVR)
------ G ------
• GAA
Pompe Disease or Glycogen Storage Disease Type II (GSDII)
• GCDH
Glutaric aciduria Type I (GA1)
• GCH1
Dopa-responsive dystonia
• GFAP
Alexander Disease
• GJB2 (Cx26)
Keratitis-ichthyosis-deafness syndrome (KID Syndrome),
Vohwinkel syndrome
• GJB3 (Cx31)
Erythrokeratodermia variabilis
• GJB4 (Cx30.3)
Erythrokeratodermia variabilis
• GJB6 (Cx30)
Hidrotic ectodermal dysplasia (Clouston syndrome)
• GLA
Fabry disease
Hypertrophic Cardiomyopathy
• GNE
Inclusion body myopathy, hereditary (HIBM)
• GUCY2D
Autosomal Recessive Leber Congenital Amaurosis
------ H ------
• HADHA, HADHB
Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Deficiency / Mitochondrial Trifunctional Protein (MTP) Deficiency
• HAX1
Congenital Neutropenia, recessive
• HLCS
Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency
• HMGCL
HMG CoA Lyase Deficiency (3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency)
• HPS1
Hermansky-Pudlak syndrome
• HPS3
Hermansky-Pudlak syndrome
• HRAS
Costello syndrome (Facio-cutaneo-skeletal syndrome; FCS syndrome) NEW: NEW 8 Gene Panel!
• HRPT2
Hyperparathyroidism-jaw tumor syndrome (HPT-JT), Parathyroid carcinoma; Familial isolated hyperparathyroidism (FIHP)
• hTR (TERC)
Dyskeratosis congenita, autosomal dominant (DKC)
------ I ------
• ICHTHYIN
Congenital recessive ichthyosis (erythrodermic type; Non-bullous congenital ichthyosiform erthroderma; NBCIE), Collodion baby
• IGHMBP2
Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
• IKBKG (NEMO)
Incontinentia Pigmenti
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
• IL7R
IL7R Severe Combined Immunodeficiency, Autosomal
Recessive (IL7R SCID)
• IMPDH1
Autosomal Dominant Leber Congenital Amaurosis, Autosomal Dominant Retinitis Pigmentosa
• IRAK4
IRAK4 Deficiency; Predisposition to Pyogenic Infections; Invasive Pneumococcal Disease
• IRF6
Van der Woude syndrome, Popliteal pterygium syndrome
• ITGB2 (LAD; CD18)
Leukocyte adhesion deficiency
• ITGB4, ITGA6
Epidermolysis bullosa, junctional with pyloric atresia (JEB-PA)
• IVD
Isovaleric Acidemia
------ J ------
• JAG1
Alagille syndrome NEW: Includes Deletion Testing!
• JAK3
Severe Combined Immunodeficiency; Autosomal Recessive
------ K ------
• KAL1
Kallmann Syndrome
• KCNQ1, KCNH2, KCNE1, KCNE2, KCNJ2
Long QT syndrome NEW: Available!
• KRAS
Noonan syndrome, Noonan Syndrome - Prenatal Testing based on ultrasound findings , Cardio-Facio-Cutaneous (CFC) Syndrome NEW: NEW 8 Gene Panel!
• KRT1 (K1)
Epidermolytic hyperkeratosis (EHK; Bullous ichthyosiform erythroderma);
Non-epidermolytic palmoplantar keratoderma (Unna-Thost)
• KRT2e (K2e)
Ichthyosis bullosa of Siemens
• KRT4 (K4)
White sponge nevus
• KRT5 (K5)
Epidermolysis bullosa simplex (EBS) - Dowling-Meara type, Koebner type, Weber-Cockayne type
• KRT6A
Pachyonychia congenita, type I
• KRT6B
Pachyonychia congenita, type II
• KRT9
Epidermolytic palmoplantar keratoderma (EPPK, V�rner type)
• KRT10
Epidermolytic hyperkeratosis (EHK; Bullous ichthyosiform erythroderma)
• KRT13
White sponge nevus
• KRT14
Epidermolysis bullosa simplex (EBS) - Dowling-Meara type, Koebner type, Weber-Cockayne type
• KRT16
Pachyonychia congenita, type I
Non-epidermolytic palmoplantar keratoderma (Unna-Thost)
• KRT17
Pachyonychia congenita, type II; Steatocystoma multiplex
------ L ------
• L1CAM
X-linked Hydrocephalus/Congenital stenosis of the aqueduct of Sylvius, MASA Syndrome; X-linked spastic paraplegia type 1, CRASH syndrome NEW: Includes Deletion Testing!
• LAMA3
Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB) - Herlitz type, Non-Herlitz type
• LAMB3
Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB) - Herlitz type, Non-Herlitz type
• LAMC2
Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB) - Herlitz type, Non-Herlitz type
• LAMP2
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Danon Disease
• LPIN2
Majeed syndrome NEW 7 Gene Panel!
• LRP5
Familial Exudative Vitreoretinopathy (FEVR)
Familial Exudative Vitreoretinopathy, Osteoporosis-Pseudoglioma syndrome, Osteopetrosis type 1, autosomal dominant, Van Buchem disease type 2, Hyperostosis corticalis generalisata, benign form of worth with torus palatinus NEW!
------ M ------
• MAP2K1/MAP2K2
Cardio-Facio-Cutaneous (CFC) Syndrome NEW: NEW 8 Gene Panel!
• MCCC1, MCCC2
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency
• MCOLN1
Mucolipidosis type IV
• MECP2
Rett syndrome, Atypical Rett syndrome, Non-syndromic Autism, X-linked infantile spasm syndrome-2
• MEFV (FMF)
Familial Mediterranean fever (FMF) NEW 7 Gene Panel!
• MEN1
Multiple endocrine neoplasia type 1, Wermer syndrome
• MLYCD
Malonyl-CoA Decarboxylase Deficiency NEW!
• MMAA, MMAB
Methylmalonic Acidemia
• MMACHC
Methylmalonic Aciduria and Homocystinuria, Cobalamin C (cblC) Type
• MPL
Congenital amegakaryocytic thrombocytopenia
• MTTK
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• MTTI
Hypertrophic Cardiomyopathy
• MTTG
Hypertrophic Cardiomyopathy
• MUT
Methylmalonic Acidemia
• MVK
Hyper-IgD syndrome (HIDS) NEW 7 Gene Panel!
• MYBPC3
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• MYCN
Feingold syndrome
• MYH7
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• MYL2
Hypertrophic Cardiomyopathy
• MYL3
Hypertrophic Cardiomyopathy
• MYOC
Primary open angle glaucoma, juvenile open glaucoma
------ N ------
• NCF1 (CGD)
Chronic granulomatous disease (autosomal recessive)
• NCF2 (CGD)
Chronic granulomatous disease (autosomal recessive)
• NEB
Nemaline myopathy
• NLRP3 (aka CIAS1)
Muckle-Wells Syndrome (MWS), Familial Cold Autoinflammatory Syndrome (FCAS), Neonatal Onset Multisystem Inflammatory Disease (NOMID) NEW 7 Gene Panel!
• NPC1, NPC2 (HE1, Epididymal Secretory Protein)
Niemann-Pick Disease, Type C
• NPD-A, NPD-B
Niemann-Pick Disease, Types A and B
• NR5A1
XY Sex Reversal With or Without Adrenal Failure NEW
• NTRK1
Congenital insensitivity to pain with anhidrosis (CIPA)
------ O ------
• OCRL
Lowe Syndrome
• OFD1 (Cxorf5)
Oral-Facial-Digital syndrome Type 1
• OPTN
Primary open angle glaucoma
• OTC
Ornithine Transcarbamylase (OTC) Deficiency NEW: Includes Deletion Testing in Females
• OTX2
Anophthalmia, Microphthalmia
------ P ------
• PAH
Phenylketonuria (PKU)
• PAX6
Aniridia, Anophthalmia, Microphthalmia, Developmental eye disease
• PCCA, PCCB
Propionic Acidemia
• PDE6A, PDE6B
Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
• PHEX
Hypophosphatemic rickets (X-linked form) NEW: Includes Deletion Testing!
• PITX2
Axenfeld-Rieger Syndrome, Rieger Syndrome
• PLEC1
Epidermolysis bullosa, Junctional with Muscular Dystrophy
• POLG
Sequence Analysis for Mitochondrial Disorders
• POR
Antley-Bixler Syndrome (ABS), POR Deficiency
• PORCN
Focal Dermal Hypoplasia (FDH) / Goltz Syndrome NEW: Includes Deletion Testing!
• PRPF3, PRPF31, PRPF8, PRPH2
Autosomal Dominant Retinitis Pigmentosa (adRP)
• PRKAG2
Hypertrophic Cardiomyopathy, Wolff-Parkinson-White (WPW) Syndrome
• PRKAR1A
Carney complex
• PSTPIP1
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome NEW 7 Gene Panel!
• PTCH
Gorlin Syndrome (Basal cell nevus syndrome, Nevoid basal cell carcinoma syndrome) NEW: Includes Deletion Testing!
• PTEN
PTEN Hamartoma Tumor syndrome (PHTS), including Cowden syndrome (CS) Bannayan-Riley-Ruvalcaba syndrome (BRRS) Proteus syndrome (PS) / Proteus-like syndrome NEW: Includes Deletion Testing!
AutismDx: Diagnostic Autism Panels 1 and 2
Autism/Macrocephaly
• PTPN11
Noonan syndrome, LEOPARD syndrome NEW: NEW 8 Gene Panel!
Noonan Syndrome - Prenatal Testing based on ultrasound findings
• PTS
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficienc NEW
------ R ------
• RAG1 and RAG2
Severe combined immunodeficiency (autosomal recessive), Omenn syndrome
• RAF1
Noonan syndrome, Noonan Syndrome - Prenatal Testing based on ultrasound findings , LEOPARD Syndrome NEW: NEW 8 Gene Panel!
• RAI1
Smith-Magenis syndrome NEW: Includes Deletion Testing!
• RDS
Autosomal Dominant Retinitis Pigmentosa (adRP)
• RET
Multiple endocrine neoplasia type 2A (MEN2A); Familial medullary thyroid carcinoma (FMTC)
Multiple Endocrine Neoplasia type 2B
Hirschsprung disease (HSCR)
• RHO
Autosomal Dominant Retinitis Pigmentosa (adRP)
• RP1
Autosomal Dominant Retinitis Pigmentosa (adRP)
• RP2
X-linked Retinitis Pigmentosa
• RPE65
Autosomal Recessive Leber Congenital Amaurosis, Autosomal Recessive Retinitis Pigmentosa
• RPS19, RPL5 and RPL11
Diamond-Blackfan anemia (Blackfan-Diamond syndrome)
• RPS6KA3 (RSK2)
Coffin-Lowry syndrome
• RMRP
Cartilage hair hypoplasia, Metaphyseal dysplasia without hypotrichosis; Spondylometaepiphyseal dysplasia, Menger type, Anauxetic dysplasia
• RS1
X-linked recessive retinoschisis, Juvenile retinoschisis
------ S ------
• SALL1
Townes-Brocks syndrome
• SALL4 (HSAL4)
Duane-Radial Ray syndrome / Acro-Renal-Ocular syndrome
• SBDS
Shwachman-Diamond syndrome
• SCN5A, SCN4B
Long QT syndrome NEW: Available!
• SDHD, SDHB, SDHC
Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
• SH3BP2 (SH3 Domain-Binding Protein 2)
Cherubism
• SHH
Holoprosencephaly NEW: Includes Deletion Testing!
• SERPING (C1INH)
Hereditary angioedema NEW: Includes Deletion Testing!
• SLC9A6
Angelman Syndrome (AS), Angelman-like syndrome (X-Linked Syndromic Mental Retardation, Christianson Type) NEW!
• SLC22A5
Primary/Systemic Carnitine Deficiency
• SIX1
Branchiootorenal Syndrome, Branchiootic Syndrome
• SIX3
Holoprosencephaly NEW: Includes Deletion Testing!
• SIX6
Aniridia, Anophthalmia, Microphthalmia, Developmental eye disease
• SMPD1; Sphingomyelin phosphodiesterase
Niemann-Pick Disease, Types A and B
• SOS1
Noonan syndrome, Noonan Syndrome - Prenatal Testing based on ultrasound findings NEW: NEW 8 Gene Panel!
• SOX2
Aniridia, Anophthalmia, Microphthalmia, Developmental eye disease
• SOX9
Campomelic Dysplasia
• SPINK5
Netherton syndrome (NTS), Ichthyosis linearis circumflexa
• SRY
46,XY Gonadal Dysgenesis
• STAT3
Hyper-IgE Recurrent Infection Syndrome; Job's Syndrome; HIES
• STK11
Peutz-Jeghers syndrome NEW: Includes Deletion Testing!
------ T ------
• TBX1 (T-Box 1)
Velocardiofacial Syndrome and DiGeorge Syndrome NEW!
• TGIF
Holoprosencephaly NEW: Includes Deletion Testing!
• TGM1
Lamellar ichthyosis (type 1), Collodion baby
• TBX5
Holt-Oram syndrome
• TERC (hTR)
Dyskeratosis congenita, autosomal dominant (DKC)
• TH
Tyrosine Hydroxylase Deficiency/ Autosomal Recessive Infantile Parkinsonism
• TNFRSF1A (TRAPS)
Familial Hibernian fever (TRAPS) NEW 7 Gene Panel!
• TNFRSF6
Autoimmune lymphoproliferative syndrome (ALPS) Type Ia
• TNNI3
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• TNNT2
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• TNNC1
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• TP73L (TP63; p63)
Ectrodactyly - ectodermal dysplasia - clefting syndrom, Split hand-split foot malformation; Hay-Wells syndrome, Limb-mammary syndrome
• TPM1
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
• TTR
Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Transthyretin Amyloidosis; Cardiac Amyloidosis
------ U ------
• UBE3A
Angelman Syndrome (AS), Angelman-like syndrome (X-Linked Syndromic Mental Retardation, Christianson Type) NEW!
• USH2A
Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
------ V ------
• VHL
Von Hippel Lindau Syndrome
• VMD2
Best vitelliform macular dystrophy (Best disease), Bestrophinopathy, autosomal recessive, Vitreoretinochoroidopathy, autosomal dominant, Foveomacular vitelliform dystrophy, adult-onset NEW!
Retinitis pigmentos, autosomal dominant NEW!
• VSX2
Anophthalmia, Microphthalmia
------ W ------
• WNT10A
Ectodermal dysplasia, Odonto-onycho-dermal dysplasia (OODD), Schöpf-Schulz-Passarge Syndrome (SSPS) NEW!
------ X ------
• XLRS1
X-linked recessive retinoschisis, Juvenile retinoschisis
------ Z ------
• ZIC2
HoloprosencephalyNEW: Includes Deletion Testing!
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