Genetic Awareness Panel (GAP)
AKA: Amish Genetic Disease Panel
Short Name: Amish Panel, GAP
The Genetic Awareness Panel (GAP), formerly named 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. GAP distills and leverages our nearly 20 years of experience identifying, diagnosing, and treating families affected by rare genetic disorders. There are more than 200 disorders for which a common Amish founder variant has been reported in medical literature. GAP tests for all published, population specific gene variants for these disorders.
CPT Code: 81408
Turn-Around Time: 6 weeks
Additional Information:
The Genetic Awareness Panel can be used for efficient diagnoses, supplemental newborn screening, and carrier testing for individuals of Amish heritage.
Efficient Diagnosis
The Genetic Awareness Panel analyzes more than 250 founder mutations common to the North American Amish populations. Results are available at a relatively inexpensive cost to the patient.
Supplemental Newborn Screening
GAP is a 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.
Carrier Testing
GAP can be used to provide risk information to interested Amish adults, most of whom are carriers for several disorders. Test results also assist parents and clinicians in future testing recommendations for at risk children or other family members.
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View Diseases and Genes Tested
Diseases Gene symbol OMIM Link 11-Beta-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia) CYP11B1 202010 3-Methylcrotonylglycinuria MCCC2 210210 3-β-OH-Steroid Dehydrogenase Deficiency HSD3B2 613890 Adenosine Deaminase Deficiency ADA 102700 Aland Island Eye Disease CACNA1F 300600 Aldosterone Deficiency I CYP11B2 203400 Alpha-1 Antitrypsin Deficiency SERPINA1 613490 Amish Brittle Hair Syndrome (Nonphotosensitive Trichothiodystrophy 4) MPLKIP 234050 Amish Microcephaly SLC25A19 607196 Amish Nemaline Myopathy TNNT1 605355 Androgen Insensitivity Syndrome AR 300068 Angelman Syndrome UBE3A 105830 Anterior Segment Dysgenisis 8 CPAMD8 617319 Apert Syndrome FGFR2 101200 Ataxia-Telangiectasia ATM 208900 Ataxia-Telangiectasia-Like Disorder-2 PCNA 615919 Autosomal Recessive Deafness-70 PNPT1 614934 Bain Type of X-Linked Syndromic Intellectual Developmental Disorder HNRNPH2 300986 Bardet-Biedl Syndrome 1 BBS1 209900 Bile Acid Conjugation Defect 1 BAAT 619232 Biotinidase Deficiency BTD 253260 Byler Disease (Progressive Familial Intrahepatic Cholestasis 1) ATP8B1 211600 Cartilage-Hair Hypoplasia RMRP 250250 Cerebral Atrophy, Autosomal Recessive TMPRSS4 *606565 Charcot-Marie-Tooth Disease, Type 4A GDAP1 214400 Chronic Granulomatous Disease CYBB 306400 Cockayne Syndrome B ERCC6 133540 CODAS Syndrome LONP1 600373 Cohen Syndrome VPS13B 216550 Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (AKA CAH) CYP21A2 201910 Congenital Secretory Sodium Diarrhea 3 SPINT2 270420 Congenital Stationary Night Blindness, Type 2A CACNA1F 3000071 Crigler-Najjar Syndrome, Type 1 UGT1A1 218800 Cystic Fibrosis CFTR 219700 Deafness and Myopia SLITRK6 221200 Developmental and Epileptic Encephalopathy-25 with Amelogenesis Imperfecta SLC13A5 615905 Dilated Cardiomyopathy 1A (Dilated caridomyopathy with AV Block) LMNA 115200 Dilated Cardiomyopathy 1G TTN 604145 Dystonia 6, Torsion THAP1 602629 Ectodermal Dysplasia-16 WNT10A 257980 Ectopia Lentis 2 ADAMTSL4 225100 Ellis-van Creveld Syndrome EVC 225500 Endocrine-Cerebroosteodysplasia ICK 612651 Factor V Leiden F5 188055 Familial Arrhythmogenic Right Ventricular Dysplasia 8 (Dilated Cardiomyopathy with Arrhythmia) DSP 607450 Familial Focal Epilepsy with Variable Foci-3 NPRL3 617118 Familial Hypercholanemia 1 TJP2 607748 Familial Hypercholesterolemia-2 APOB 144010 Familial Hypertrophic Cardiomyopathy-4 MYBPC3 115197 Familial Hypobetalipoproteinemia-1 APOB 615558 Galactosemia GALT 230400 Gastrointestinal Defects and Immunodeficiency Syndrome-2 PI4KA 619708 Gaucher Disease, Type 3 GBA 231000 Gitelman Syndrome SLC12A3 263800 Glucose/Galactose Malabsorption SLC5A1 606824 Glutaric Acidemia I GCDH 231670 Glutaric Aciduria III SUGCT 231690 Glycogen Storage Disease II (Pompe Disease) GAA 232300 Glycogen Storage Disease-1A G6PC 232200 GM1-Gangliosidosis, Type II GLB1 230600 GM2 Synthase Deficiency B4GALNT1 609195 GM3 Synthase Deficiency ST3GAL5 609056 Gray Platelet Syndrome NBEAL2 139090 Hemochromatosis, Type 1 HFE 235200 Hemophilia B F9 306900 HERC2 Disorder HERC2 615516 Hermansky-Pudlak Syndrome-1 HPS1 203300 Holt-Oram Syndrome TBX5 142900 Hydranencephaly and Renal Dysplasia CEP55 236500 Hyperinsulinemic Hypoglycemia of Infancy ABCC8 256450 Hypertrophic Cardiomyopathy-9 TTN 613765 Hypomyelinating Leukodystrophy 2 GJC2 608804 Idiopathic Generalized Epilepsy CACNA1G *604065 Infantile Hypercalcemia-1 CYP24A1 143880 Infantile Parkinsonism-Dystonia SLC6A3 613135 Infantile-Onset Multisystem Disease-2 YARS1 619418 Intellectual Developmental Disorder and Retinitis Pigmentosa SCAPER 618195 Intellectual Developmental Disorder, Autosomal Recessive 58 ELP2 617270 Intellectual Developmental Disorder-34 CRADD 614499 Intellectual Disability, Non-Syndromic SMG8 619268 Jackson-Weiss Syndrome FGFR2 123150 Jalili Syndrome CNNM4 217080 Jervell and Lange-Nielsen Syndrome KCNQ1 220400 Knobloch Syndrome 1 COL18A1 267750 KPTN Disorder KPTN 615637 Lethal Neonatal Rigidity and Multifocal Seizure Syndrome BRAT1 614498 Limb-Girdle Muscular Dystrophy-1 (Type 2A) CAPN3 253600 Limb-Girdle Muscular Dystrophy-4 (Type 2E) SGCB 604286 Long QT Syndrome-1 (LQT1) KCNQ1 192500 Long QT Syndrome 2 KCNH2 613688 Lowe Syndrome OCRL 309000 Maple Syrup Urine Disease, Type IA BCKDHA 248600 Marfan Syndrome FBN1 154700 MAST Syndrome SPG21 248900 McKusick-Kaufman Syndrome MKKS 236700 Medium-Chain Acyl-CoA Dehydrogenase Deficiency ACADM 201450 Methylmalonic Aciduria and Homocystinuria, cbIC Type MMACHC 277400 Microcephalic Osteodysplastic Primordial Dwarfism-1 (MOPD1) RNU4ATAC 210710 Microcephaly with Chorioretinopathy-1 TUBGCP6 251270 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ADAMTS18 615458 Mitochondrial DNA Depletion Syndrome 4A POLG 203700 MTHFR Risk Factor for Hyperhomocysteinemia MTHFR 236250 Mucolipidosis II Alpha/Beta GNPTAB 252500 Muenke Syndrome FGFR3 602849 Multiple Exostoses Type 1 EXT1 133700 Multiple Pterygium Syndrome, Escobar Variant CHRNG 265000 Multisystem Autoimmune Disease with Facial Dysmorphism ITCH 613385 Myopathy with HyperCKemia MLIP 620138 Nanophthalmos 2 MFRP 609549 Nephronophthisis-3 NPHP3 604387 Nephropathic Cystinosis CTNS 219800 Nephrotic Syndrome Type 2 NPHS2 600995 Neurodegeneration with Brain Iron Accumulation PANK2 234200 Neuronal Ceroid Lipofuscinosis-6A CLN6 601780 Non-Ketotic Hyperglycinemia GLDC 605899 Non-Syndromic Deafness GJB2 220290 NRCAM-Related Neurodevelopmental Disorder NRCAM 619833 Oculocutaneous Albinism, Type 1B TYR 606952 Ornithine Transcarbamylase Deficiency OTC 311250 Orofacial Clefting HYAL2 *603551 Osteogenesis Imperfecta IV COL1A2 166220 Osteogenesis Imperfecta-14 TMEM38B 615066 Osteopetrosis TCIRG1 259700 Parkinson Disease, Juvenile, Type 2 PRKN (PARK2) 600116 Peroxisome Biogenesis Disorder 7A (Zellweger) PEX26 614872 Pfeiffer Syndrome FGFR2 101600 Phenylketonuria (PKU) PAH 261600 Pitt-Hopkins-Like Syndrome 1 (Cortical Dysplasia-Focal Epilepsy Syndrome) CNTNAP2 610042 Plasminogen Activator Inhibitor-1 Deficiency SERPINE1 613329 Polycystic Kidney Disease 1 PKD1 173900 Pontocerebellar Hypoplasia, Type 2A TSEN54 277470 Poretti-Boltshauser Syndrome LAMA1 615960 Primary Ciliary Dyskinesia-18 DNAAF5 614874 Primary Ciliary Dyskinesia-3 DNAH5 608644 Primary Ciliary Dyskinesia-5 HYDIN 608647 Primary Congenital Glaucoma 3A CYP1B1 231300 Primary Microcephaly-6 CENPJ 608393 Progressive High-Frequency Hearing Loss NIN *608684 Prolidase Deficiency PEPD 170100 Propionic Acidemia PCCB 606054 Proximal Symphalangism 1A NOG 185800 Pyruvate Kinase Deficiency of Red Cells PKLR 266200 Renin Deficiency REN *179820 Reticular Dysgenesis AK2 267500 SAMS Association SAMHD1 612952 Severe Combined Immunodeficiency (AKA SCID) RAG1 601457 Sitosterolemia 1 ABCG8 210250 SMPD4-Related Neurodevelopmental Disorder SMPD4 618622 SNIP1-Related Neurodevelopmental Disorder SNIP1 614501 Spastic Ataxia-4 MTPAP 613672 Spastic Paraplegia 15 ZFYVE26 270700 Spastic Paraplegia-45 NT5C2 613162 Spherocytosis, Type 4 SLC4A1 612653 Spinocerebellar Ataxia 8 SYNE1 610743 Spondylepiphyseal Dysplasia and Humerospinal Dysostosis CHST3 143095 Sudden Infant Death with Dysgenesis of the Testes Syndrome TSPYL1 608800 Thanatophoric Dysplasia, Type I FGFR3 187600 Thyroid Dyshormonogenesis 2A TPO 274500 Timothy Syndrome CACNA1C 601005 TMCO1 Defect Syndrome TMCO1 213980 Trichohepatoneurodevelopmental Syndrome CCDC47 618268 Troyer Syndrome SPART 275900 Turner Type of X-Linked Syndromic Intellectual Developmental Disorder HUWE1 309590 Tyrosinemia, Type 3 HPD 276710 Usher Syndrome, Type 3B HARS 614504 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency) ACADVL 201475 Visceral Heterotaxy-9 with Male Infertility MNS1 618948 von Willebrand Disease, Type 2 VWF 613554 Wolfram Syndrome 1 WFS1 222300 X-linked Cone-Rod Dystrophy-3 CACNA1F 300476 X-Linked Intellectual Developmental Disorder-106 OGT 300997 X-Linked Intellectual Developmental Disorder-21 IL1RAPL1 300143 Yoder Dystonia WDR73 251300