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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cerebellofaciodental syndrome, 616202, Autosomal recessive; CFDS (Cerebellar-facial-dental syndrome) (BRF1 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

Cerebellofaciodental syndrome, 616202, Autosomal recessive; CFDS (Cerebellar-facial-dental syndrome) (BRF1 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Comprehensive Brain Malformation Panel

Genetic Services Laboratory University of Chicago
United States
37131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • C Sequence analysis of the entire coding region

Cerebellar-facial-dental syndrome (sequence analysis of BRF1 ene)

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

SPINAL MUSCULAR ATROPHY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
146
  • E Sequence analysis of select exons

SHORT STATURE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1152
  • E Sequence analysis of select exons

Cerebellofaciodental syndrome: Full gene sequencing

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

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

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • 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

BRF1 Single Gene

Fulgent Genetics
United States
181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.