Clinical and research tests for APPL1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MODY Panel Genetic Services Laboratory University of Chicago United States	10	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DiabetesNow Comprehensive Genetic Panel GoPath Diagnostics United States	1	15	D Deletion/duplication analysis
APPL1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MODY and Neonatal Diabetes Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	17	23	C Sequence analysis of the entire coding region
Invitae Monogenic Diabetes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity-onset diabetes of the young, type 14, 616511, Autosomal dominant; MODY14 (MODY) (APPL1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Maturity Onset Diabetes of the Young (MODY) via the APPL1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity Onset Diabetes of the Young (MODY) Panel PreventionGenetics, part of Exact Sciences United States	20	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Monogenic Diabetes Panel Genetic Services Laboratory University of Chicago United States	14	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MODY Panel CGC Genetics Unilabs Portugal	1	17	C Sequence analysis of the entire coding region
Diabetes panel_v.2.0 CGC Genetics Unilabs Portugal	1	130	C Sequence analysis of the entire coding region
Monogenic Diabetes Panel (MODY) Mendelics Brazil	1	23	C Sequence analysis of the entire coding region
Monogenic Diabetes and MODY Panel Clinical Genomics Laboratory Washington University in St. Louis United States	1	44	C Sequence analysis of the entire coding region
Atypical Diabetes and ER Stress Disorders Gene Panel Clinical Genomics Laboratory Washington University in St. Louis United States	1	54	C Sequence analysis of the entire coding region
MODY Type 14 Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.