Clinical and research tests for C4021768 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Custom Panel (Newborn Screening Follow-up) PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSport Recovery & Injury Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	7	E Sequence analysis of select exons
GeneSport Panel Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	2	E Sequence analysis of select exons
GeneSport X (Extended Panel) Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	8	E Sequence analysis of select exons
NutriGenetiks 'Health' Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	11	E Sequence analysis of select exons
Male Infertility NGS Panel Fulgent Genetics United States	79	45	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Burn-McKeown Syndrome (TXNL4A Single Gene Test) Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dopamine Metabolism Deficiency NGS Panel Fulgent Genetics United States	19	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infertility NGS Panel Fulgent Genetics United States	92	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan and RASopathies NGS Panel Fulgent Genetics United States	235	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Female Infertility NGS Panel Fulgent Genetics United States	76	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurotransmitter Metabolism Deficiency NGS Panel Fulgent Genetics United States	85	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ABL1 Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPSA Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RNF216 Single Gene Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
REG1A Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TXNL4A Single Gene Fulgent Genetics United States	30	1	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.