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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Hypoglycemia Panel

Invitae
United States
173119
  • 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
11
  • 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
11
  • C Sequence analysis of the entire coding region

Short stature with endocrinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1614
  • 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
1614
  • 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
1614
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

UMOD

Institute of Human Genetics Medical University Innsbruck
Austria
41
  • S Mutation scanning of the entire coding region

Comprehensive Short Stature Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
8260
  • C Sequence analysis of the entire coding region

Growth Hormone Deficiency Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1511
  • C Sequence analysis of the entire coding region

Isolated growth hormone deficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
64
  • C Sequence analysis of the entire coding region

Combined Pituitary Hormone Deficiency

Asper Biogene Asper Biogene LLC
Estonia
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM)

Laboratorio de Genetica Clinica SL
Spain
45
  • D Deletion/duplication analysis
  • 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
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XRCC4 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

POC1A Single Gene

Fulgent Genetics
United States
371
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CRIPT Single Gene

Fulgent Genetics
United States
221
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Isolated growth hormone deficiency type IA

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

GH1 Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GH1 (GHD) DNA Sequencing Test

Athena Diagnostics
United States
31
  • C Sequence analysis of the entire coding region

Growth Hormone Deficiency (GHD) Evaluation

Athena Diagnostics
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.