Clinical and research tests for 8675 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypoparathyroidism Panel Invitae United States	41	18	D Deletion/duplication analysis
Pseudohypoparathyroidism, type IB, 603233, Autosomal dominant; PHP1B (Pseudohypoparathyroidism type 1B) (STX16 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
Hypoparathyroidism Panel PreventionGenetics, part of Exact Sciences United States	15	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Family hypoparathyroidism (WES based NGS panel of 15 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	12	C Sequence analysis of the entire coding region
Pseudohypoparathyroidism type 1B (deletion/duplication analysis on STX16 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Pseudohypoparathyroidism type 1B (sequence analysis of STX16 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Clinically Recognized Syndromes Panel Mendelics Brazil	1	236	C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Hypoparathyroidism Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	22	C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary kidney disorders - different panels Institute of Human Genetics Cologne University Germany	32	481	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypothyroidism and Thyroid Hormone Resistance Asper Biogene Asper Biogene LLC Estonia	29	22	C Sequence analysis of the entire coding region
Hypoparathyroidism panel Genetic Services Laboratory University of Chicago United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing STX16 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
STX16 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	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.