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Results: 1 to 20 of 26 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Cerebral Cortical Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
2326
  • D Deletion/duplication analysis

Baraitser Winter syndrome sequencing panel

Genetic Services Laboratory University of Chicago
United States
12
  • C Sequence analysis of the entire coding region

Comprehensive Lissencephaly Panel

Genetic Services Laboratory University of Chicago
United States
1834
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
124129
  • E Sequence analysis of select exons

Baraitser-Winter syndrome 2

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

Cerebral Cortical Malformation Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
5453
  • C Sequence analysis of the entire coding region

Deafness, Autosomal Dominant 20 (DFNA20) via the ACTG1 Gene

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

ACTG1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • 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

BARAITSER-WINTER SYNDROME TYPE 1

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

BARAITSER-WINTER SYNDROME TYPE 2

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Baraitser-Winter Syndrome Type 2 , Sequencing ACTG1 Gene

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

Rasopathy NextGen Panel

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
1221
  • C Sequence analysis of the entire coding region

Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel

Invitae
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
185145
  • C Sequence analysis of the entire coding region

NGS Hearing Loss Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11091
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders Panel

CeGaT GmbH
Germany
3250
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders Panel

CeGaT GmbH
Germany
3250
  • C Sequence analysis of the entire coding region

ACTG1

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

Neurology: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
255164
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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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