Clinical and research tests for C0431693 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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 - Expanded 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
Renal cysts and diabetes syndrome, 137920, Autosomal dominant; RCAD (Renal cysts and diabetes syndrome) (HNF1B 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
Renal cysts and diabetes syndrome, 137920, Autosomal dominant; RCAD (Renal cysts and diabetes syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Cystic Kidney Diseases Panel PreventionGenetics, part of Exact Sciences United States	47	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity-Onset Diabetes of the Young (MODY) Panel Ambry Genetics United States	14	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic kidney disease and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polycystic kidney disease and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic kidney disease and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	28	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypomagnesemia Panel PreventionGenetics, part of Exact Sciences United States	16	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	82	77	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel PreventionGenetics, part of Exact Sciences United States	9	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.