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

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Growth hormone deficiency, isolated partial, 615925, Autosomal recessive, Autosomal dominant; GHDP (Short stature due to GHSR deficiency) (GHSR 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
Short stature with endocrinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short stature with endocrinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short stature with endocrinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	16	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Short Stature with or without Partial Isolated Growth Hormone Deficiency via the GHSR 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
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
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
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	104	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
SHORT STATURE EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	152	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
Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	82	60	C Sequence analysis of the entire coding region
Growth Hormone Deficiency Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	15	11	C Sequence analysis of the entire coding region
Short Stature Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	86	C Sequence analysis of the entire coding region
GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) Laboratorio de Genetica Clinica SL Spain	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GHSR 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	5130	4674	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Growth hormone deficiency, isolated partial Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.