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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

PAX3 - NGS including CNV analysis

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

PAX7 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FOXO1 (FKHR) Rearrangement Detection by FISH

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
13
  • M FISH-metaphase

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Rhabdomyosarcoma 2, alveolar, 268220, Autosomal recessive; RMS2 (Rhabdomyosarcoma) (PAX7 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

Rhabdomyosarcoma 2, alveolar, 268220, Autosomal recessive (Rhabdomyosarcoma) (MLPA)

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

Rhabdomyosarcoma, alveolar, 268220, Autosomal recessive (Rhabdomyosarcoma) (FOXO1 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

Rhabdomyosarcoma 2, alveolar, 268220, Autosomal recessive (Rhabdomyosarcoma) (PAX3 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

Solid and brain tumor fusion panel

Laboratory for Molecular Pediatric Pathology Boston Children's Hospital
United States
1426
  • E Sequence analysis of select exons

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Panel

PreventionGenetics, part of Exact Sciences
United States
5842
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PAX3

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

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

FOXO1 fussion mutations

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • I FISH-interphase

Results: 1 to 20 of 32

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.