Clinical and research tests for C0342573 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Growth hormone deficiency, isolated, type IA, 262400, Autosomal recessive; IGHD1A (Non-acquired isolated growth hormone deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Growth hormone deficiency, isolated, type IA, 262400, Autosomal recessive; IGHD1A (Non-acquired isolated growth hormone deficiency) (GH1 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
UMOD Institute of Human Genetics Medical University Innsbruck Austria	4	1	S Mutation scanning 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
Isolated growth hormone deficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	4	C Sequence analysis of the entire coding region
Combined Pituitary Hormone Deficiency Asper Biogene Asper Biogene LLC Estonia	10	8	D Deletion/duplication analysis 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
Growth Hormone Deficiency , Deletions-Duplications (MLPA) GH1 Gene Reference Laboratory Genetics Spain	3	1	D Deletion/duplication analysis
Isolated Growth Hormone Deficiency Type IA , Sequencing GH1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
GH1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XRCC4 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POC1A Single Gene Fulgent Genetics United States	37	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CRIPT Single Gene Fulgent Genetics United States	22	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	10	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Isolated growth hormone deficiency type IA Bioarray Spain	1	1	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.