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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

Griscelli syndrome, type 3, 609227, Autosomal recessive; GS3 (Griscelli disease) (MLPH 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

Griscelli syndrome, type 3, 609227, Autosomal recessive; GS3 (Griscelli disease) (MLPH 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

Holocarboxylase synthetase deficiency (deletion/duplication analysis on HLCS gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

MVL Vision Panel

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

MLPH - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • 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 Oculocutaneous Albinism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2822
  • D Deletion/duplication analysis

Invitae Hypopigmentation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8346
  • D Deletion/duplication analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Oculocutaneous Albinism and Hypopigmentation Panel

PreventionGenetics, part of Exact Sciences
United States
2431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MLPH Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Griscelli syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • 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

Albinism panel

Genetic Services Laboratory University of Chicago
United States
921
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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.