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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

SEPTIN9 Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SEPTIN9 - NGS including CNV analysis

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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth (CMT) - Comprehensive Panel

PreventionGenetics, part of Exact Sciences
United States
9183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SEPT9 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

SEPT9 Targeted Mutation Analysis

Baylor Genetics
United States
11
  • T Targeted variant analysis

GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
198
  • C Sequence analysis of the entire coding region

SEPTIN9

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Amyotrophy hereditary neuralgic (deletion/duplication on SEPT9 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Amyotrophy hereditary neuralgic (sequence analysis of SEPT9 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

HEREDITARY SENSORY-AUTONOMIC NEUROPATHY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
130
  • E Sequence analysis of select exons

CHARCOT-MARIE-TOOTH EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1151
  • E Sequence analysis of select exons

MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1416
  • E Sequence analysis of select exons

MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL

Laboratorio de Genetica Clinica SL
Spain
1250
  • E Sequence analysis of select exons

MI Tumor Seek Hybrid

Caris Life Sciences
United States
1591
  • R RNA analysis
  • C Sequence analysis of the entire coding region

CoGenesis@Neuro

Codex Genetics Limited
Hong Kong
1490
  • T Targeted variant analysis

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Xpanded Adult Movement Disorders Panel

GeneDx
United States
5473
  • C Sequence analysis of the entire coding region

Epi proColon

ARUP Laboratories, Molecular Oncology ARUP Laboratories
United States
11
  • M Methylation analysis

Results: 1 to 20 of 40

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.