Clinical and research tests for C2931042 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HPD - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hawkinsinuria, 140350, Autosomal dominant (Hawkinsinuria) (HPD gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Hawkinsinuria, 140350, Autosomal dominant (Hawkinsinuria) (HPD 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tyrosinemia Panel PreventionGenetics, part of Exact Sciences United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Tyrosinemia Type III and Hawkinsinuria via the HPD Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HPD Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region
HPD Prenatal Sequence Analysis Baylor Genetics United States	2	1	E Sequence analysis of select exons
HPD Familial Mutation/Variant Analysis Baylor Genetics United States	2	1	E Sequence analysis of select exons
Amino Acid Analysis - Plasma Baylor Genetics United States	25	26	A Analyte
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Tyrosinemia panel Genologica Medica Spain	4	3	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tyrosinemia NGS Panel Fulgent Genetics United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated Tyrosine (Tyrosinemia) Panel Invitae United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HPD Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HPD Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis 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.