Our Tests

List of Diseases

Single Gene Disorders tested by PGD

Gene Name

Achondroplasia

FGFR3

Achromatopsia

CNGB3

Acromesomelic Dysplasia, Maroteaux Type

NPR2

Adenosine Deaminase Deficiency

ADA

Adrenoleukodystrophy

ABCD1

Agammaglobulinemia

BTK

Aicardi-Goutieres Syndrome

TREX1; RNASEH2B; SAMHD1

Allan-Herndon-Dudley Syndrome

SLC16A2

Alopecia

HR

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

POLG

Alpha 1 Antitrypsin Deficiency

SERPINA1

Alpha Thalassemia

HBA1; HBA2

Alport Syndrome

AMMECR1; COL4A5

Alzheimer Disease

PSEN1; PSEN2

Amyotrophic Lateral Sclerosis

SOD1; SETX

Androgen Receptor

AR

Angelman Syndrome

UBE3A

Aniridia

PAX6

Argininosuccinic Aciduria

ASL

Arthrogryposis - Multiple Types

TNNT3; FBN2; VPS33B

Ataxia-Telangiectasia

ATM

Axenfeld-Rieger Syndrome

PITX2

Bardet-Biedl Syndrome; BBS

BBS10

Barth Syndrome

TAZ

Bartter Syndrome, Type 3

CLCNKB

Basal Cell Nevus Syndrome; Gorlin Syndrmoe

PTCH1

Becker Muscular Dystrophy

DMD

Benign Chronic Pemphigus

ATP2C1

Beta Thalassemia

HBB

Beta-Hydroxyisobutyryl Coa Deacylase Deficiency

HIBCH

Biotinidase Deficiency

BTD

Birt-Hogg-Dube Syndrome

FLCN

Blepharophimosis, Ptosis, And Epicanthus Inversus; BPES

FOXL2

Blood Group--Kell-Cellano System

KEL

Bloom Syndrome

BLM

Brachydactyly, Type B1

ROR2

Brain Tumor, Posterior Fossa Of Infancy, Familial

SMARCB1

Branchiooculofacial Syndrome; BOFS

TFAP2A

Campomelic Dysplasia With Autosomal Sex Reversal

SOX9

Camurati-Engelmann Disease

TGFB1

Canavan Disease

ASPA

Carbamoyl Phosphate Synthetase I Deficiency; CPS I Deficiency

CPS1

Cardioencephalomyopathy

SCO2

Cardiomyopathy

LMN; RBM20; MYH7; TNNT2; MYBPC3; TNNI3

Carnitine Deficiency

SLC2A10; SLC22A5

Carnitine Palmitoyltransferase II Deficiency

CPT2

Cartilage-Hair Hypoplasia

RMRP

Cerebral Arteriopathy

NOTCH3

Ceroid Lipofuscinosis, Neuronal - Multiple Types

TPP1; PPT1; CTSD

CHARCOT-MARIE-TOOTH DISEASE: Type 1A, Type 1B, Type 2A2, Type 2B, Type 2E, X-Linked

PMP22; MPZ; MFN2; RAB7A; NEFL;GJB1

Cholestasis

ABCB11; ABCB4

Chondrodysplasia Punctata

ARSE

Choroideremia

CHM

Ciliary Dyskinesia

DNAH5

Citrullinemia, Classic

ASS1

Cleidocranial Dysplasia; CCD

RUNX2

Coenzyme Q10 Deficiency

COQ2

Cohen Syndrome

VPS13B

Collagen Disorders

COL4A5

Cone-Rod Dystrophy

GUCY2D

Congenital Adrenal Hyperplasia (CAH)

CYP21A2

Congenital Disorder Of Glycosylation - Multiple Types

PMM2; COG6

Congenital; Megakaryocytic Thrombocytopenia; CAMT

MPL

Corneal Dystrophy

TGFBI

Craniofacial Dysostosis

FGFR2

Craniofrontonasal Syndrome; CFNS

EFNB1

Craniosynostosis

MSX2

Creutzfeldt-Jakob Disease; CJD

PRNP

Currarino Syndrome

MNX1

Cutis Laxa - Multiple Types

ELN; FBLN4; PYCR1

Cystic Fibrosis; CF

CFTR

Cystinosis, Nephropathic

CTNS

Darier-White Disease

ATP2A2

D-Bifunctional Protein Deficiency

HSD17B4

Deafness

GJB2

Dentinogenesis Imperfecta

DSPP

Diamond-Blackfan Anemia - Multiple Genes

RPS20; RPL35A; RPS10; RPS19

Dihydrolipoamide Dehydrogenase Deficiency

DLD

Dihydroxyadenin Urolithiasis

APRT

Donnai-Barrow Syndrome

LRP2

Donohue Syndrome

INSR

Duchenne MUSCULAR DYSTROPHY

DMD

Dyskeratosis Congenita - Multiple Types

TINF2; RTEL1; TERT

Dystonia - Multiple Types

TOR1A; TAF1

Early-Onset Familial Alzheimer Disease;

APP

Ectodermal Dysplasia - Multiple Types

EDAR; EDA

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

p63

Ehlers-Danlos Syndrome: Type I, IV, VI, VII

COL5A1; COL3A1; PLOD1; ADAMTS2

Emery-Dreifuss Muscular Dystrophy

LMNA; EMD

Epidermolysis Bullosa, Multiple Types

COL7A1; LAMB3; PLEC1; KRT5; LAMA3

Epidermolytic Hyperkeratosis

KRT10

Epilepsy, Pyridoxine-Dependent

ALDH7A1

Epileptic Encephalopathy

CDKL5

Epiphyseal Dysplasia

COMP

Multiple Exostoses: Type I & II

EXT1; EXT2

Fabry Disease

GLA

Facioscapulohumeral Muscular Dystrophy 1A

FRG1

Factor VII Deficiency

F7

Familial Adenomatous Polyposis Syndrome; FAP

APC

Familial Cold Autoinflammatory Syndrome

NLRP3

Familial Mediterranean Fever; MEFV

MEFV

Fanconi Anemia, Complementation Groups: A, C, D2, E, F, G, I, J

FANCA; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCI; BRIP1

Fetal Akinesia Deformation Sequence; FADS

RAPSN

Fragile Site

FMR2

Fragile X Syndrome

FMR1

Fraser Syndrome

FRAS1

Friedreich Ataxia

FRDA; FXN

Galactosemia

GALT

Gangliosidosis

GLB1

Gaucher Disease

GBA

Gaze Palsy, Familial Horizontal, With Progressive Scoliosis

ROBO3

Geroderma Osteodysplasticum

GORAB

Gerstmann-Straussler Disease

PRNP

Glaucoma, Primary Congenital

CYP1B1

Glucose Transport Defect

SLC2A1

Glucose-6-Phosphate Dehydrogenase; G6PD

G6PD

Glutaric Acidemia

GCDH

Glycogen Storage Disease - Multiple Types

G6PC; SLC37A4; GAA; AGL; PHKA2; PYGL

Granulomatous Disease

NCF2; CYBB

Greig Cephalopolysyndactyly Syndrome

GLI3

Griscelli Syndrome With Hemophagocytic Syndrome

RAB27A

Hemochromatosis; HFE

HFE

Hemophagocytic Lymphohistiocytosis - Multiple Types

PRF1; UNC13D; STX11

Hemophilia A

F8

Hemophilia B

F9

Hereditary Angioedema

SERPING1

Hereditary Breast and Ovarian Cancer Syndrome; HBOC

BRCA1; BRCA2

Hereditary Diffuse Gastric Cancer,HDGC

CDH1

Hereditary Fructose Intolerance

ALDOB

Hereditary Leiomyomatosis And Renal Cell Cancer; HLRCC

FH

Hereditary Motor And Sensory Neuropathy

TRPV4

Hereditary Neuropathic Amyloidosis

TTR

Hereditary Nonpolyposis Colorectal Cancer; HNPCC

MSH; MSH6; MLH1; PMS2

Hereditary Pancreatitis

PRSS1

Hermansky-Pudlak Syndrome 1; HPS1

HPS1

HLA Matching

 

Holoprosencephaly

SIX3

Holt-Oram Syndrome

TBX5

Homocystinuria

CBS; MTHFR

Hoyeraal-Hreidarsson Syndrome

DKC1

Huntington Disease

HTT

Hurler Syndrome

IDUA

Hyalinosis

ANTXR2

Hydrocephalus

L1CAM

Hyperglycinemia

AMT; GLDC

Hyper-IgE Recurrent Infection Syndrome

STAT3; DOCK8

Hyperinsulinemic Hypoglycemia

ABCC8

Hypertrophic Neuropathy Of Dejerine-Sottas

PRX

Hypogonadotropic Hypogonadism

KAL1

Hypomagnesemia

CLDN16

Hypophosphatasia

ALPL

Hypophosphatemic Rickets

PHEX

Ichthyosis - Multiple Types

MBTPS 2; TGM1; ABCA12; ELOVL4

Immunodeficiency

CD247; CD40LG

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked; IPEX

FOXP3

Incontinentia Pigmenti; IP

IKBKG

Isovaleric Acidemia

IVD

Joubert Syndrome

INPP5E; TMEM216; CSPP1; AHI1; TMEM67; C5orf42

Juvenile Myelomonocytic Leukemia; JMML

NRAS

Kallmann Syndrome

FGFR1

Kennedy Spinal And Bulbar Muscular Atrophy

AR

Krabbe Disease

GALC

Larsen Syndrome

FLNB

Leber Congenital Amaurosis, Multiple Types

RPE65; AIPL1; LCA4; RPGRIP1

Leigh Syndrome

NDUFS8; SURF1

Leri-Weill Dyschondrosteosis

SHOX

Lesch-Nyhan Syndrome

HPRT1

Leukocyte Adhesion Deficiency

ITGB2

Leukoencephalopathy

EIF2B2; EIF2B4; EIF2B5

Li-Fraumeni Syndrome

TP53

Lipoid Congenital Adrenal Hyperplasia

STAR

Lissencephaly

ARX

Loeys-Dietz Syndrome

TGFBR2

Long Qt Syndrome

KCNQ1; KCNH2

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

HADHA

Lymphedema-Distichiasis Syndrome

FOXC2

Lymphoproliferative Syndrome

SH2D1A

Machado-Joseph Disease; MJD

ATXN3

Maple Syrup Urine Disease; MSUD

BCKDHB

Marfan Syndrome

FBN1

Meckel Gruber Syndrome

MKS1; CEP290; CC2D2A; TCTN2

Medium-Chain Acyl-CoA Dehydrogenase; MCAD

ACADM

MEGDEL; 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome

SERAC1

Mental Retardation

HERC2

Metachromatic Leukodystropy

ARSA

Metaphyseal Chondrodysplasia

COL10A1

Methylmalonic Aciduria

MUT; MMAB

Microcephalic Osteodysplastic Primordial Dwarfism

RNU4ATAC

Microcephaly - Multiple Genes

WDR62; CDK5RAP2; ASPM

Microcoria-Congenital Nephrosis Syndrome

LAMB2

Microphthalmia

VSX2

Microtubule-Associated Protein Tau

MAPT

Migraine, Familial Hemiplegic

CACNA1A

Minicore Myopathy With External Ophthalmoplegia

RYR1

Mitochondrial Complex I Deficiency Due To ACAD9 Deficiency

ACAD9

Mitochondrial DNA Depletion Syndrome 10 (Cardiomyopathic Type)

AGK

Morquio Syndrome

GALNS

Mosaic Variegated Aneuploidy Syndrome

BUB1B

Mucolipidosis

GNPTAB

Mucopolysaccharidosis - Multiple Types

IDS; SGSH; ARSB

Multiple Acyl-CoA Dehydrogenase Deficiency; MADD

ETFA

Multiple Endocrine Neoplasia, MEN; Type I, Type IIA, Type IV

MEN1; RET; CDKN1B

Muscular Dystrophy, Congenital Merosin-Deficient

LAMA2

Muscular Dystrophy-Dystroglycanopathy

FKTN; FKRP; POMT1

Myasthenic Syndrome

CHRNE

Myoclonic Epilepsy

NHLRC1

Myoglobinuria

LPIN1

Myopathy

MEGF10; DES

Myotonia Congenita, Autosomal Dominant

CLCN1

Myotonic Dystrophy

DMPK; CNBP

Myotubular Myopathy

MTM1

N-Acetylglutamate Synthase Deficiency

NAGS

Nail-Patella Syndrome

LMX1B

Nemaline Myopathy

NEB

Nephrogenic Syndrome Of Inappropriate Antidiuresis

AVPR2

Nephrosis

NPHS1

Neuraminidase Deficiency

NEU1

Neurofibromatosis

NF1; NF2

Neuropathy - Multiple Types

SPTLC1; IKBKAP; DST

Neutropenia

ELANE

Niemann-Pick Disease

SMPD1; NPC1; NPC2

Noonan Syndrome

PTPN11; KRAS; SOS1

Norrie Disease

NDP

Ocular Albinism

GPR143

Oculocutaneous Albinism; OCA1, OCA2, OCA3

TYR; OCA2; TYRP1

Omenn Syndrome

RAG1

Optic Atrophy

OPA1

Ornithine Transcarbamylase Deficiency

OTC

Osteogenesis Imperfecta

COL1A1; COL1A2; PPIB

Osteopetrosis

CLCN7; TCIRG1

Pachyonychia Congenita

KRT6A

Paramyotonia Congenita Of Von Eulenburg

SCN4A

Pelizaeus-Merzbacher-Like Disease

PLP1

Periodic Fever, Familial

TNFRSF1A

Periventricular Heterotopia

FLNA

Perlman Syndrome

DIS3L2

Peroxisomal Acyl-CoA Oxidase Deficiency

ACOX1

Peutz-Jeghers Syndrome; PJS

STK11

Pfeiffer Syndrome

FGFR1

Phenylketonuria; PKU

PAH

Polycystic Kidney Disease; ADPKD and ARPKD

PKD1; PKD2; PKHD1

Polymicrogyria

GPR56

Popliteal Pterygium Syndrome

IRF6

Porphyria, Congenital Erythropoietic

UROS

Propionic Acidemia

PCCA; PCCB

Prosaposin Deficiency

PSAP

Pseudohypoparathyroidism, TYPE IA and TYPE IB

GNAS

Pseudovaginal Perineoscrotal Hypospadias

SRD5A2

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

PNPO

Pyruvate Kinase Deficiency Of Red Cells

PKLR

Renal Hypodysplasia/Aplasia

RET

Renal Tubular Acidosis

ATP6V0A4

Restrictive Dermopathy

ZMPSTE24

Retinitis Pigmentosa

RHO; RP2; RPGR

Retinoblastoma; RB1

RB1

Retinoschisis

RS1

Rett Syndrome

MECP2

Rhesus Blood Group

RHCE; RHD

Saethre-Chotzen Syndrome

TWIST1

Sandhoff Disease

HEXB

Severe Combined Immunodeficiency; SCID

RAG2; IL2RG

Sheldon-Hall Syndrome

TNNI2

Shwachman-Diamond Syndrome

SBDS

Sickle Cell Anemia

HBB

Smith-Lemli-Opitz Syndrome

DHCR7

Sonic Hedgehog

SHH

Sotos Syndrome

NSD1

Spastic Paraplegia

ATL1; SPAST

Spinal Muscular Atrophy; SMA

SMN1; IGHMBP2

Spinocerebellar Ataxia: Type 1, Type 2, Type 6, Type 7, Type 8

ATXN1; ATXN2; CACNA1A; ATXN7; ATNX8OS

Stargardt Disease

ABCA4

Stickler Syndrome: Type I & Type II

COL2A1; COL11A1

Succinic Semialdehyde Dehydrogenase Deficiency

ALDH5A1

Sulfocysteinuria

SUOX

Surfactant Metabolism Dysfunction

ABCA3

Symphalangism

NOG

Tay-Sachs Disease

HEXA

Telangiectasia, Hereditary Hemorrhagic; HHT

ENG; ACVRL1

Temtamy Syndrome

C12orf57

Thrombasthenia Of Glanzmann And Naegeli

ITGA2B

Thrombocythemia

SH2B3

Thrombocytopenia

ITGB3

Thrombocytopenia-Absent Radius Syndrome; TAR

RBM8A

Thrombophilia Due To Protein S Deficiency

PROS1

Thrombotic Thrombocytopenic Purpura

ADAMTS13

Treacher Collins Syndrome

POLR1D; TCOF1

Tuberous Sclerosis: Type 1 & Type 2

TSC1; TSC2

Tyrosinemia

FAH

Ulnar Deficiency

RAPGEF6

Ulnar-Mammary Syndrome

TBX3

Usher Syndrome - Multiple Types

MYO7A; PCDH15

Van Der Woude Syndrome

IRF6

Very Long-Ahain acyl-CoA Dehydrogenase; VLCAD

ACADVL

Vici Syndrome

EPG5

Von Hippel-Lindau Syndrome; VHL

VHL

Waardenburg Syndrome

MITF

Warburg Micro Syndrome

RAB3GAP1

Wilson Disease

ATP7B

Wiskott-Aldrich Syndrome

WAS

Wolfram Syndrome

WFS1

Wolman Disease

LIPA

Zellweger Syndrome

PEX1; PEX; PXMP2; PEX12, PEX13