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Results: 1 to 20 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuropathy, recurrent, with pressure palsies, 162500, Autosomal dominant (Hereditary neuropathy with liability to pressure palsies) (PMP22 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Neuropathy, recurrent, with pressure palsies, 162500, Autosomal dominant (Hereditary neuropathy with liability to pressure palsies) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Charcot Marie Tooth Type 1A

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Neuropathy with Liability to Pressure Palsies (PMP22)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PMP22 Gene, Deletion/Duplication

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • D Deletion/duplication analysis

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

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

Charcot Marie Tooth Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4634
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

PMP22 - MLPA

Centogene AG - the Rare Disease Company
Germany
61
  • D Deletion/duplication analysis

PMP22 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
61
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Genomic Unity Neuropathies Analysis (includes STR analysis of 4 loci)

Variantyx, Inc.
United States
21
  • 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

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Results: 1 to 20 of 56

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.