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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

Van den Ende-Gupta syndrome, 600920, Autosomal recessive; VDEGS (Van den Ende-Gupta syndrome) (SCARF2 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

Van den Ende-Gupta syndrome, 600920, Autosomal recessive; VDEGS (Van den Ende-Gupta syndrome) (SCARF2 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

SCARF2

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

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS Panel

Fulgent Genetics
United States
33961
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes

Reference Laboratory Genetics
Spain
119
  • C Sequence analysis of the entire coding region

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

Van den Ende-Gupta Syndrome , Sequencing SCARF2 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

NGS panel - Aortic or arterial dilatation / dissection

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
1121
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

NGS panel- Aortic or arterial dilatation/dissection + COL5A1

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
1423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal/Ambiguous Genitalia Panel

Genetic Services Laboratory University of Chicago
United States
8192
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SCARF2 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

Results: 1 to 15 of 15

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.