Clinical and research tests for 3547 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
IGSF1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Hypothyroidism, central, and testicular enlargement, 300888, X-linked recessive; CHTE (X-linked central congenital hypothyroidism with late-onset testicular enlargement) (IGSF1 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
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel PreventionGenetics, part of Exact Sciences United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Pituitary hormone deficiency (WES based NGS panel of 29 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	29	C Sequence analysis of the entire coding region
Pituitary hormone deficiency (WES based NGS panel of 25 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	25	C Sequence analysis of the entire coding region
Male Infertility Panel CGC Genetics Unilabs Portugal	1	165	C Sequence analysis of the entire coding region
Female Infertility Panel CGC Genetics Unilabs Portugal	1	129	C Sequence analysis of the entire coding region
X-linked central congenital hypothyroidism with late-onset testicular enlargement (sequencing and CNV analysis of IGSF1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Neonatal Baby Cheek Screening Test Mendelics Brazil	1	342	C Sequence analysis of the entire coding region
Treatable Disorders Panel Mendelics Brazil	1	369	C Sequence analysis of the entire coding region
Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain	42	21	C Sequence analysis of the entire coding region
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
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	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
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypothyroidism Panel Genetic Services Laboratory University of Chicago United States	11	33	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.