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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GHRHR Gene Growth hormone deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GHRHR - 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
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Growth hormone deficiency, isolated, type IB, 612781; IGHD1B (Non-acquired isolated growth hormone deficiency) (GHRHR 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
Growth hormone deficiency, isolated, type IB, 612781; IGHD1B (Non-acquired isolated growth hormone deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
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
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
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
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Isolated growth hormone deficiency (IGHD) type IB (sequence analysis of GHRHR gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Short Stature Panel Mendelics Brazil	1	67	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

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