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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRIM37 - NGS including CNV analysis

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

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • 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

Mulibrey nanism, 253250, Autosomal recessive (MULIBREY nanism) (TRIM37 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

Mulibrey nanism, 253250, Autosomal recessive (MULIBREY nanism) (TRIM37 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

Wilms Tumor Panel

PreventionGenetics, Part of Exact Sciences
United States
4828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisomal Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
3627
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRIM37

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

Mulibrey nanism (sequence analysis of TRIM37 gene)

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

Peroxisomal disorders panel. NGS panel of 27 genes.

Genologica Medica
Spain
4527
  • C Sequence analysis of the entire coding region

3M syndrome / primordial dwarfism panel. NGS panel of 24 genes.

Genologica Medica
Spain
3324
  • C Sequence analysis of the entire coding region

Peroxisomal Disorders Gene Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
3930
  • C Sequence analysis of the entire coding region

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes

Reference Laboratory Genetics
Spain
10978
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Male Factor Infertility

Asper Biogene Asper Biogene LLC
Estonia
9990
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRIM37 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mulibrey nanism

MedGene
Slovakia
11
  • 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.