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Results: 21 to 40 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Waardenburg Syndrome Types IIE and IVC via the SOX10 Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

SOX10

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes.

Genologica Medica
Spain
9674
  • C Sequence analysis of the entire coding region

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomyelinating Leukodystrophy NGS Panel

Fulgent Genetics
United States
22562
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HIRSCHSPRUNG´S DISEASE

Laboratorio de Genetica Clinica SL
Spain
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome Panel 

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
96
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome panel

Molecular Vision Laboratory
United States
197
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
3478
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing SOX10

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

CeGaT GmbH
Germany
3635
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy Panel

CeGaT GmbH
Germany
3635
  • C Sequence analysis of the entire coding region

Genetic disorders with abnormal pigmentation Panel

CeGaT GmbH
Germany
2932
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel

Molecular Vision Laboratory
United States
4529
  • C Sequence analysis of the entire coding region

SOX10 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 47

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.