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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes)

CGC Genetics Unilabs
Portugal
13
  • C Sequence analysis of the entire coding region

VANGL1 Gene Caudal regression syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

VANGL1 - 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

Caudal regression syndrome, 600145, Autosomal dominant (Sirenomelia) (VANGL1 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

Caudal regression syndrome, 600145, Autosomal dominant (Sirenomelia) (VANGL1 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

SACRAL DEFECT WITH ANTERIOR MENINGOCELE (Sirenomelia) (VANGL1 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

Neural tube defects, susceptibility to, 182940, Autosomal dominant (Neural tube closure defect) (VANGL1 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

Caudal regression syndrome (sequence analysis of VANGL1 gene)

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

Caudal regression syndrome (deletion/duplication analysis on VANGL1 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Caudal regression syndrome: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

CoGenesis@Neuro

Codex Genetics Limited
Hong Kong
1490
  • T Targeted variant analysis

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Pain Syndromes (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
727
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Caudal regression syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.