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Results: 1 to 20 of 29

Tests names and labsConditionsGenes and analytesMethods

Hypoparathyroidism, sensorineural deafness, and renal dysplasia

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

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
124129
  • E Sequence analysis of select exons

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

ExomePLUS Cystic Disease & Dysplasia/Agenesis

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2122
  • C Sequence analysis of the entire coding region

ExomePLUS Electrolyte & Kidney Stone

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4649
  • C Sequence analysis of the entire coding region

Hypoparathyroidism Sequencing Panel with CNV Detection

PreventionGenetics
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection

PreventionGenetics
United States
3342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via the GATA3 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GATA3. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

GATA3. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

OtoSCOPE

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
181153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
251184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes

Reference Laboratory Genetics
Spain
4645
  • C Sequence analysis of the entire coding region

Barakat Syndrome, Sequencing GATA3 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Hypoparathyroidism - deafness - renal disease

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

Syndromic and non syndromic deafness (NGS panel for 127 genes)

CGC Genetics
Portugal
118127
  • C Sequence analysis of the entire coding region

Syndromic deafness (NGS panel for 62 genes)

CGC Genetics
Portugal
5662
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.

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