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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (Ocular albinism with congenital sensorineural deafness) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Albinism, oculocutaneous, type IA, 203100, Autosomal recessive; OCA1A (Oculocutaneous albinism type 1) (TYR 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 3, light/dark/freckling skin], 601800 (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (TYR 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 IA, 203100, Autosomal recessive; OCA1A (Oculocutaneous albinism type 1) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Albinism, oculocutaneous, type IB, 606952; OCA1B (Oculocutaneous albinism type 1) (TYR 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 3, blue/green eyes], 601800 (Ocular albinism with congenital sensorineural deafness) (TYR 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 IB, 606952; OCA1B (Oculocutaneous albinism type 1) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Albinism Amplexa Genetics Amplexa Genetics A/S Denmark	1	28	S Mutation scanning of the entire coding region
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	136	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	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.