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DDC Clinic
Molecular Diagnostics Laboratory

Telephone: 440-632-5532
e-mail: lab@ddcclinic.org

Amish Genetic Disease Panel

Amish Genetic Disease Panel

The Amish Genetic Disease Panel was developed to address what is often an expensive and lengthy diagnostic odyssey for clinicians treating patients of Amish descent.  This panel distills and leverages our nearly twenty years of experience identifying, diagnosing, and treating families affected by rare genetic disorders.

There are more than 120 disorders for which a common Amish founder variant has been reported in the medical literature. This panel tests for all published, population specific gene variants for these disorders. 

The Amish Genetic Disease Panel can be used for efficient diagnoses, supplemental newborn screening, and carrier testing for individuals of Amish heritage.

Efficient Diagnosis

The Amish Genetic Disease Panel analyzes more than 120 founder mutations common to the North American Amish populations in one test. Results for more than 120 founder mutations are available in a few weeks at a relatively inexpensive cost to the patient.

Supplemental Newborn Screening

The Amish Genetic Disease Panel is a critical supplement to state newborn screening for high risk families with Amish ancestry. DNA based testing does not require confirmatory testing, as does newborn screening, which allows for faster diagnoses and prompt treatment of affected newborns. Our panel covers additional conditions that are not covered on state newborn screening, providing the most comprehensive genetic screening possible for our Amish families.

Carrier Testing

The Amish Genetic Disease Panel can be used to provide risk information to interested Amish adults, most of whom are carriers for several disorders. Test results will assist parents and clinicians in future testing recommendations for at risk children or other family members.

Sample Collection and shipping

Requires 3-5 ml whole blood or cord blood in a purple top (EDTA) tube; 2-3 ml for infants and children under two. Sample should be refrigerated until shipped. Ship by overnight delivery or courier, protecting sample from temperature extremes.

Cost and turn-around time

Cost: $450. Test results available within 4 to 6 weeks.

Contact us!

For any questions, please call our lab at (440) 632-5532, or email at lab@ddcclinc.org

  • Genes on the Amish Genetic Disease Panel

    Disease and [Gene Name]

    PLEASE NOTE: Specific mutations are tested in the below genes. Other mutations in these genes are not analyzed on this panel. 

    11-beta-hydroxylase deficiency [CYP11B1]
    3-methylcrotonylglycinuria [MCCC2]
    3-β-OH-steroid dehydrogenase deficiency [HSD3B2]
    Adenosine deaminase deficiency [ADA]
    Aland island eye disease & stationary night blindness [CACNA1F]
    Aldosterone deficiency [CYP11B2]
    Alpha-1 antitrypsin deficiency [SERPINA1]
    Amish albinism [TYR]
    Amish brittle hair syndrome [MPLKIP]
    Amish microcephaly [SLC25A19]
    Amish nemaline myopathy [TNNT1]
    Apert syndrome [FGFR2]
    Ataxia telangiectasia [ATM]
    Bardet-Biedl syndrome [BBS1]
    Bartter syndrome [CLCNKB]
    Biotinidase deficiency [BTD]
    Byler disease [ATP8B1]
    Cartilage-hair hypoplasia [RMRP]
    Cerebral atrophy, autosomal recessive [TMPRSS4]
    Charcot-Marie-Tooth disease [GDAP1]
    Chronic granulomatous disease [CYBB]
    Cockayne syndrome [ERCC6]
    Cohen syndrome [VPS13B]
    Congenital adrenal hyperplasia (CAH) [CYP21A2]
    Congenital sodium diarrhea [SPINT2]
    Cortical dysplasia-focal epilepsy [CNTNAP2]
    Crigler-Najjar syndrome [UGT1A1]
    Cystic fibrosis [CFTR]
    Cystinosis (AKA nephropathic cystinosis) [CTNS]
    Dilated cardiomyopathy with arrhythmia [DSP]
    Dilated cardiomyopathy with AV block [LMNA]
    Dystonia 6 torsion [THAP1]
    Ellis-van Creveld syndrome [EVC]
    Endocrine-cerebro-osteodysplasia [ICK]
    Epilepsy and seizure disorder [CACNA1A]
    Factor V Leiden [F5]
    Familial hypercholanemia [TJP2 and BAAT]
    Galactosemia [GALT]
    Gaucher disease [GBA]
    Gittelman syndrome [SLC12A3]
    Glaucoma 3, primary congenital, A [CYP1B1]
    Glucose/galactose malabsorption [SLC5A1]
    Glutaric aciduria type 1 [GCDH]
    Glutaric aciduria type 3 [SUGCT]
    Glycogen storage disease type 1a [G6PC]
    GM1-gangliosidosis [GLB1]
    GM2 synthase deficiency [B4GALNT1]
    GM3 synthase deficiency [ST3GAL5]
    Gray platelet syndrome [NBEAL2]
    Hallervorden-Spatz syndrome [PANK2]
    HARS disorder (AKA Usher-like syndrome) [HARS]
    Hemophilia B [F9]
    HERC2 disorder (AKA blue eye delay) [HERC2]
    Hereditary hemochromatosis [HFE]
    Hereditary spherocytosis type 4 [SLC4A1]
    Hypertrophic cardiomyopathy [MYBPC3]
    Hypomyelinating leukodystrophy [GJC2]
    I-cell disease (AKA mucolipidosis II) [GNPTAB]
    Infantile parkinsonism-dystonia [SLC6A3]
    ITCH deficiency [ITCH]
    Jackson-Weiss syndrome [FGFR2]
    Knobloch syndrome [COL18A1]
    KPTN disorder [KPTN]
    Lethal neonatal rigidity & seizure syndrome [BRAT1]
    Limb-girdle muscular dystrophies [CAPN3 and SGCB]
    Long QT syndrome 1 [KCNQ1]
    Maple syrup urine disease, type IA (AKA MSUD) [BCKDHA]
    Mast syndrome [SPG21]
    McKusick-Kaufman syndrome [MKKS]
    Methylmalonic aciduria and homocystinuria, cblC type [MMACHC]
    Microcephaly w/ chorioretinopathy (Mennonite microcephaly)[TUBGCP6]
    Mitochondrial DNA depletion syndrome 4A [POLG]
    Microcephalic osteodysplastic primordial dwarfism type 1(MOPD1) [RNU4ATAC]
    MTHFR deficiency (AKA homocystinuria) [MTHFR]
    Multiple pterygium syndrome, Escobar type [CHRNG]
    Myopia and deafness [SLITRK6]
    Nanophthalmos 2 [MFRP]
    Nephrotic syndrome, type 2 [NPHS2]
    Non-ketotic hyperglycinemia   [GLDC]
    Non-syndromic deafness [GJB2]
    Non-syndromic mental retardation [CRADD]
    Ornithine transcarbamylase deficiency [OTC]
    Osteogenesis imperfecta [COL1A2]
    Osteopetrosis [TCIRG1]
    PCNA disorder [PCNA]
    Phenylketonuria (AKA PKU) [PAH]
    Plasminogen activator inhibitor-1 (AKA PAI-1) deficiency [SERPINE1]
    Polycystic kidney disease (AKA nephronophthisis type 3) [NPHP3]
    Primary ciliary dyskinesia [DNAH5]
    Prolidase deficiency [PEPD]
    Propionic acidemia [PCCB]
    Pyruvate kinase deficiency [PKLR]
    SAMS association (AKA Aicardi-Goutieres syndrome type 5) [SAMHD1]
    Severe combined immune deficiency (AKA SCID) [RAG1]
    Sitosterolemia [ABCG8]
    SNIP1 disorder [SNIP1]
    Spastic ataxia 4 [MTPAP]
    Spondylepiphyseal dysplasia and humerospinal dysostosis [CHST3]
    Sudden infant death with dysgenesis of the testes [TSPYL1]
    Thanatophoric dysplasia [FGFR3]
    Thyroid dyshormonogenesis 2A [TPO]
    Timothy syndrome [CACNA1C]
    TMCO1 defect syndrome [TMCO1]
    Troyer syndrome [SPART]
    Tyrosinemia, type 3 [HPD]
    von Willebrand disease [VWF]
    Weill-Marchesani syndrome [ADAMTS10]
    Yoder dystonia (AKA Galloway Mowat syndrome) [WDR73]

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