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Results: 1 to 20 of 60

Tests names and labsConditionsGenes and analytesMethods

Pendred syndrome

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

Pendred syndrome

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

Pendred Syndrome

Center for Genetics at Saint Francis Saint Francis Hospital
United States
11
  • C Sequence analysis of the entire coding region

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
122147
  • C Sequence analysis of the entire coding region

Congenital Hypothyroidism and Thyroid Hormone Resistance Nextgen Sequencing (NGS) Panel

PreventionGenetics
United States
2218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

SLC26A4. Detection of the mutations p.Leu236Pro, p.Thr416Pro and c.1001 1G>Aby sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

SLC26A4. Complete sequencing

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

SLC26A4. MLPA testing

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

SLC26A4 (PDS) Gene Sequencing

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
21
  • C Sequence analysis of the entire coding region

OtoGenome Test for Hearing Loss (87 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
11286
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the SLC26A4 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pendred Syndrome - SLC26A4 Del/Dup Analysis

Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • D Deletion/duplication analysis

Pendred Syndrome - SLC26A4 Sequencing

Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

OtoSCOPE

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
9892
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS Hearing Loss Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10285
  • C Sequence analysis of the entire coding region

CONGENITAL HYPOTHYROIDISM

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1922
  • C Sequence analysis of the entire coding region

USHER SYNDROME and NON-SYNDROMIC DEAFNESS

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2518
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 60

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.