Clinical and research tests for 4157 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Tempus xT Tempus AI - RTP United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
MC1R Gene Melanoma, cutaneous malignant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Hereditary Expanded Cancer Panel Mayo Clinic Laboratories Mayo Clinic United States	1	86	C Sequence analysis of the entire coding region
Tempus xT Tempus AI - CHI United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Hereditary Melanoma Panel Genetic Services Laboratory University of Chicago United States	8	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Centogene AG - the Rare Disease Company Germany	113	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Melanoma, cutaneous malignant, 5, 613099; CMM5 (Familial melanoma) (MC1R 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
UV-induced skin damage, 266300, Autosomal recessive (MC1R 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
[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300, Autosomal recessive (MC1R 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
Albinism, oculocutaneous, type II, modifier of, 203200, Autosomal recessive (Oculocutaneous albinism type 2) (MC1R 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
[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300, Autosomal recessive (MC1R 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
[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (MC1R 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
Albinism Amplexa Genetics Amplexa Genetics A/S Denmark	1	28	S Mutation scanning of the entire coding region
Oculocutaneous Albinism and Hypopigmentation Panel PreventionGenetics, part of Exact Sciences United States	24	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Melanoma (WES based NGS panel of 8 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	8	C Sequence analysis of the entire coding region
Oculocutaneous albinism type 2 (sequence analysis of MC1R gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Hereditary Melanoma Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	11	11	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.