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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

MBTPS2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Invitae
United States
7745
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Olmsted syndrome, X-linked, 300918, X-linked recessive (Mutilating palmoplantar keratoderma with periorificial keratotic plaques) (MBTPS2 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

Olmsted syndrome, X-linked, 300918, X-linked recessive (Mutilating palmoplantar keratoderma with periorificial keratotic plaques) (MBTPS2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Osteogenesis Imperfecta Panel

PreventionGenetics, Part of Exact Sciences
United States
3326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel

PreventionGenetics, Part of Exact Sciences
United States
3727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

X-Linked Intellectual Disability Panel

PreventionGenetics, Part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta panel. 28-gene NGS panel.

Genologica Medica
Spain
4827
  • C Sequence analysis of the entire coding region

Ichthyosis panel. 31-gene NGS panel.

Genologica Medica
Spain
5831
  • C Sequence analysis of the entire coding region

X-linked intellectual disability panel. 99-gene NGS panel.

Genologica Medica
Spain
14399
  • C Sequence analysis of the entire coding region

Palmoplantar keratoderma panel. 25-gene NGS panel.

Genologica Medica
Spain
6225
  • C Sequence analysis of the entire coding region

Olmsted syndrome, X-linked: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Intellectual Disability X-linked Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13690
  • C Sequence analysis of the entire coding region

Intellectual Disability & Autism Spectrum Disorders Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
210139
  • C Sequence analysis of the entire coding region

Ichthyosis

Asper Biogene Asper Biogene LLC
Estonia
6747
  • C Sequence analysis of the entire coding region

MBTPS2

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta

Asper Biogene Asper Biogene LLC
Estonia
8041
  • 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.