Targeted Variant Analysis

Targeted variant analysis is limited to pathogenic mutations found in Old Order Amish and Mennonite populations. Each test is designed to detect a known disease-causing gene variant associated with a specific genetic disorder due to founder effect. Targeted variant analysis can be used for rapid diagnosis or carrier testing.

Our lab performs targeted variant analysis for the conditions listed below.

DiseasesGene symbolOMIMMedGen
Alpha-1-Antitrypsin Deficiency (SERPINA1) Targeted TestingSERPINA161349067461
Amish Brittle Hair Syndrome (MPLKIP) Targeted TestingMPLKIP234050501191
Amish Nemaline Myopathy (TNNT1) Targeted TestingTNNT1605355344273
Autosomal Recessive Deafness-70 (PNPT1) Targeted TestingPNPT1614934760477
Autosomal Recessive Osteopetrosis (TCIRG1) Targeted TestingTCIRG1259700376708
Byler Disease (ATP8B1) Targeted TestingATP8B12116001645830
Cartilage-Hair Hypoplasia (RMRP) Targeted TestingRMRP25025067398
Charcot-Marie-Tooth Disease, Type 4A (GDAP1) Targeted TestingGDAP1214400347821
Cockayne Syndrome B (ERCC6) Targeted TestingERCC6133540155487
Cohen Syndrome (VPS13B) Targeted TestingVPS13B21655078539
Combined Oxidative Phosphorylation Deficiency-13 (PNPT1) Targeted TestingPNPT16149321631854
Cortical Dysplasia and Focal Epilepsy Syndrome (CNTNAP2) Targeted TestingCNTNAP2610042413258
Crigler-Najjar Syndrome, Type 1 (UGT1A1) Targeted TestingUGT1A121880041346
Cystic Fibrosis (CFTR) Targeted TestingCFTR21970041393
Deafness and Myopia (SLITRK6) Targeted TestingSLITRK6221200812605
Developmental and Epileptic Encephalopathy-25 (SLC13A5) Targeted TestingSLC13A5615905863058
Dilated Cardiomyopathy (DSP) Targeted TestingDSP607450336069
Dilated Cardiomyopathy 1G (TTN) Targeted TestingTTN604145347714
Torsion Dystonia 6 (THAP1) Targeted TestingTHAP1602629236274
Ectodermal Dysplasia-16 (WNT10A) Targeted TestingWNT10A257980208666
Ectopia Lentis 2 (ADAMTSL4) Targeted TestingADAMTSL4225100762100
Factor V Leiden (F5) Targeted TestingF5188055396074
Familial Focal Epilepsy with Variable Foci-3 (NPRL3) Targeted TestingNPRL3617118934675
Familial Hypertrophic Cardiomyopathy-4 (MYBPC3) Targeted TestingMYBPC3115197350526
Familial Periodic Fever/TRAPS (TNFRSF1A) Targeted TestingTNFRSF1A142680226899
Gastrointestinal Defects and Immunodeficiency Syndrome-2 (PI4KA) Targeted TestingPI4KA6197081811526
Gaucher Disease, Type 3 (GBA) Targeted TestingGBA23100078653
Gitelman Syndrome (SLC12A3) Targeted TestingSLC12A326380075681
Glucose/Galactose Malabsorption (SLC5A1) Targeted TestingSLC5A160682478647
Glycogen Storage Disease-1A (G6PC) Targeted TestingG6PC232200415885
GM2 Synthase Deficiency (B4GALNT1) Targeted TestingB4GALNT1609195373138
GM3 Synthase Deficiency (ST3GAL5) Targeted TestingST3GAL5609056323005
Hemochromatosis, Type 1 (HFE) Targeted TestingHFE235200854011
Hemophilia B (F9) Targeted TestingF9306900945
HERC2 Disorder (HERC2) Targeted TestingHERC2615516816083
Hermansky-Pudlak Syndrome-1 (HPS1) Targeted TestingHPS1203300419514
Intellectual Developmental Disorder and Retinitis Pigmentosa (SCAPER) Targeted TestingSCAPER6181951648358
Jalili Syndrome (CNNM4) Targeted TestingCNNM4217080501210
Jervell and Lange-Nielsen Syndrome (KCNQ1) Targeted TestingKCNQ12204005929
KPTN Disorder (KPTN) Targeted TestingKPTN615637816555
Long QT Syndrome-1 (LQT1) (KCNQ1) Targeted TestingKCNQ11925001641146
MAST Syndrome (SPG21) Targeted TestingSPG21248900343325
McKusick-Kaufman Syndrome (MKKS) Targeted TestingMKKS236700184924
Microcephalic Osteodysplastic Primordial Dwarfism-1 (MOPD1) (RNU4ATAC) Targeted TestingRNU4ATAC210710347149
Microcephaly with Chorioretinopathy-1 (TUBGCP6) Targeted TestingTUBGCP6251270480111
MTHFR Risk Factor for Hyperhomocysteinemia (MTHFR) Targeted TestingMTHFR188050463623
Neurodegeneration with Brain Iron Accumulation (PANK2) Targeted TestingPANK22342006708
NRCAM-Related Neurodevelopmental Disorder (NRCAM) Targeted TestingNRCAM6198331803456
Oculocutaneous Albinism, Type 1B (TYR) Targeted TestingTYR606952337712
Osteogenesis Imperfecta-14 (TMEM38B) Targeted TestingTMEM38B615066767342
Phenylketonuria (PKU) (PAH) Targeted TestingPAH26160019244
Primary Ciliary Dyskinesia-5 (HYDIN) Targeted TestingHYDIN608647324840
Prolidase Deficiency (PEPD) Targeted TestingPEPD170100120647
Propionic Acidemia (PCCB) Targeted TestingPCCB60605475694
Pyruvate Kinase Deficiency of Red Cells (PKLR) Targeted TestingPKLR266200473069
SAMS Association (SAMHD1) Targeted TestingSAMHD1612952413116
SNIP1-Related Neurodevelopmental Disorder (SNIP1) Targeted TestingSNIP1614501482685
Spastic Ataxia-4 (MTPAP) Targeted TestingMTPAP613672462275
Spastic Paraplegia-45 (NT5C2) Targeted TestingNT5C2613162854816
Spherocytosis, Type 4 (SLC4A1) Targeted TestingSLC4A1612653436375
TMCO1 Defect Syndrome (TMCO1) Targeted TestingTMCO12139801808104
Troyer Syndrome (SPG20) Targeted TestingSPG2027590097950
Yoder Dystonia (WDR73) Targeted TestingWDR732513001634188