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.

Diseases	Gene symbol	OMIM	MedGen
Alpha-1-Antitrypsin Deficiency (SERPINA1) Targeted Testing	SERPINA1	613490	67461
Amish Brittle Hair Syndrome (MPLKIP) Targeted Testing	MPLKIP	234050	501191
Amish Nemaline Myopathy (TNNT1) Targeted Testing	TNNT1	605355	344273
Autosomal Recessive Deafness-70 (PNPT1) Targeted Testing	PNPT1	614934	760477
Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing	TCIRG1	259700	376708
Byler Disease (ATP8B1) Targeted Testing	ATP8B1	211600	1645830
Cartilage-Hair Hypoplasia (RMRP) Targeted Testing	RMRP	250250	67398
Charcot-Marie-Tooth Disease, Type 4A (GDAP1) Targeted Testing	GDAP1	214400	347821
Cockayne Syndrome B (ERCC6) Targeted Testing	ERCC6	133540	155487
Cohen Syndrome (VPS13B) Targeted Testing	VPS13B	216550	78539
Combined Oxidative Phosphorylation Deficiency-13 (PNPT1) Targeted Testing	PNPT1	614932	1631854
Cortical Dysplasia and Focal Epilepsy Syndrome (CNTNAP2) Targeted Testing	CNTNAP2	610042	413258
Crigler-Najjar Syndrome, Type 1 (UGT1A1) Targeted Testing	UGT1A1	218800	41346
Cystic Fibrosis (CFTR) Targeted Testing	CFTR	219700	41393
Deafness and Myopia (SLITRK6) Targeted Testing	SLITRK6	221200	812605
Developmental and Epileptic Encephalopathy-25 (SLC13A5) Targeted Testing	SLC13A5	615905	863058
Dilated Cardiomyopathy 1G (TTN) Targeted Testing	TTN	604145	347714
Ectodermal Dysplasia-16 (WNT10A) Targeted Testing	WNT10A	257980	208666
Ectopia Lentis 2 (ADAMTSL4) Targeted Testing	ADAMTSL4	225100	762100
Factor V Leiden (F5) Targeted Testing	F5	188055	396074
Familial Arrhythmogenic Right Ventricular Dysplasia 8 (DSP) Targeted Testing	DSP	607450	336069
Familial Focal Epilepsy with Variable Foci-3 (NPRL3) Targeted Testing	NPRL3	617118	934675
Familial Hypertrophic Cardiomyopathy-4 (MYBPC3) Targeted Testing	MYBPC3	115197	350526
Familial Periodic Fever/TRAPS (TNFRSF1A) Targeted Testing	TNFRSF1A	142680	226899
Gastrointestinal Defects and Immunodeficiency Syndrome-2 (PI4KA) Targeted Testing	PI4KA	619708	1811526
Gaucher Disease, Type 3 (GBA) Targeted Testing	GBA	231000	78653
Gitelman Syndrome (SLC12A3) Targeted Testing	SLC12A3	263800	75681
Glucose/Galactose Malabsorption (SLC5A1) Targeted Testing	SLC5A1	606824	78647
Glycogen Storage Disease-1A (G6PC) Targeted Testing	G6PC	232200	415885
GM2 Synthase Deficiency (B4GALNT1) Targeted Testing	B4GALNT1	609195	373138
GM3 Synthase Deficiency (ST3GAL5) Targeted Testing	ST3GAL5	609056	323005
Hemochromatosis, Type 1 (HFE) Targeted Testing	HFE	235200	854011
Hemophilia B (F9) Targeted Testing	F9	306900	945
HERC2 Disorder (HERC2) Targeted Testing	HERC2	615516	816083
Hermansky-Pudlak Syndrome-1 (HPS1) Targeted Testing	HPS1	203300	419514
Intellectual Developmental Disorder and Retinitis Pigmentosa (SCAPER) Targeted Testing	SCAPER	618195	1648358
Jalili Syndrome (CNNM4) Targeted Testing	CNNM4	217080	501210
Jervell and Lange-Nielsen Syndrome (KCNQ1) Targeted Testing	KCNQ1	220400	5929
KPTN Disorder (KPTN) Targeted Testing	KPTN	615637	816555
Long QT Syndrome-1 (LQT1) (KCNQ1) Targeted Testing	KCNQ1	192500	1641146
MAST Syndrome (SPG21) Targeted Testing	SPG21	248900	343325
McKusick-Kaufman Syndrome (MKKS) Targeted Testing	MKKS	236700	184924
Microcephalic Osteodysplastic Primordial Dwarfism-1 (MOPD1) (RNU4ATAC) Targeted Testing	RNU4ATAC	210710	347149
Microcephaly with Chorioretinopathy-1 (TUBGCP6) Targeted Testing	TUBGCP6	251270	480111
MTHFR Risk Factor for Hyperhomocysteinemia (MTHFR) Targeted Testing	MTHFR	188050	463623
Neurodegeneration with Brain Iron Accumulation (PANK2) Targeted Testing	PANK2	234200	6708
NRCAM-Related Neurodevelopmental Disorder (NRCAM) Targeted Testing	NRCAM	619833	1803456
Oculocutaneous Albinism, Type 1B (TYR) Targeted Testing	TYR	606952	337712
Osteogenesis Imperfecta-14 (TMEM38B) Targeted Testing	TMEM38B	615066	767342
Phenylketonuria (PKU) (PAH) Targeted Testing	PAH	261600	19244
Primary Ciliary Dyskinesia-5 (HYDIN) Targeted Testing	HYDIN	608647	324840
Prolidase Deficiency (PEPD) Targeted Testing	PEPD	170100	120647
Propionic Acidemia (PCCB) Targeted Testing	PCCB	606054	75694
Pyruvate Kinase Deficiency of Red Cells (PKLR) Targeted Testing	PKLR	266200	473069
SAMS Association (SAMHD1) Targeted Testing	SAMHD1	612952	413116
SNIP1-Related Neurodevelopmental Disorder (SNIP1) Targeted Testing	SNIP1	614501	482685
Spastic Ataxia-4 (MTPAP) Targeted Testing	MTPAP	613672	462275
Spastic Paraplegia-45 (NT5C2) Targeted Testing	NT5C2	613162	854816
Spherocytosis, Type 4 (SLC4A1) Targeted Testing	SLC4A1	612653	436375
TMCO1 Defect Syndrome (TMCO1) Targeted Testing	TMCO1	213980	1808104
Torsion Dystonia 6 (THAP1) Targeted Testing	THAP1	602629	236274
Troyer Syndrome (SPG20) Targeted Testing	SPG20	275900	97950
Yoder Dystonia (WDR73) Targeted Testing	WDR73	251300	1634188