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Results: 1 to 20 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

LHX3 Gene Pituitary hormone deficiency, combined type 3 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
287218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
122128
  • E Sequence analysis of select exons

Genomic Unity® Hearing Loss Disorders Analysis

Variantyx, Inc.
United States
1318
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LHX3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Hypoglycemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Invitae Disorders of Sex Development Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pituitary hormone deficiency, combined, 3, 221750, Autosomal recessive; CPHD3 (Non-acquired combined pituitary hormone deficiency with spine abnormalities) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Pituitary hormone deficiency, combined, 3, 221750, Autosomal recessive; CPHD3 (Non-acquired combined pituitary hormone deficiency with spine abnormalities) (LHX3 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 92

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.