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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

MPLKIP - NGS including CNV analysis

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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • 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 Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Trichothiodystrophy 4, nonphotosensitive, 234050, Autosomal recessive; TTD4 (BIDS syndrome) (MPLKIP 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

Trichothiodystrophy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Trichothiodystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Trichothiodystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14873
  • D Deletion/duplication analysis

Trichothiodystrophy, nonphotosensitive 1 (sequence analysis of MPLKIP gene)

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

Ectodermal dysplasia panel. 23-gene NGS panel.

Genologica Medica
Spain
6023
  • 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

MPLKIP gene sequencing

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • C Sequence analysis of the entire coding region

Ichthyosis

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

MPLKIP

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

Trichothiodystrophy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

Ichthyosis NGS Panel

Fulgent Genetics
United States
9843
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amish Brittle Hair Brain Syndrome (MPLKIP) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

Ichthyoses and related disorders of cornification Panel

CeGaT GmbH
Germany
4265
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.