| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|
Beaulieu-Boycott-Innes syndrome, 613680, Autosomal recessive; BBIS (Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type) (THOC6 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
Beaulieu-Boycott-Innes syndrome, 613680, Autosomal recessive; BBIS (Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type) (THOC6 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL
Spain | 3 | 1969 | - S Mutation scanning of the entire coding region
- C Sequence analysis of the entire coding region
|
Intellectual Disability Panel CGC Genetics Unilabs
Portugal | 1 | 1307 | - C Sequence analysis of the entire coding region
|
Beaulieu-Boycott-Innes syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada | 1 | 1 | - C Sequence analysis of the entire coding region
|
Genomic Unity® Custom Analysis Variantyx, Inc.
United States | 1 | 4054 | - D Deletion/duplication analysis
- X Mutation scanning of select exons
- C Sequence analysis of the entire coding region
|
Microcephaly Xpanded Panel GeneDx
United States | 1 | 877 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Autism/ID Xpanded Panel GeneDx
United States | 2 | 2592 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
THOC6 Single Gene Fulgent Genetics
United States | 19 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Clinical Exome Fulgent Genetics
United States | 5128 | 4672 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Microcephaly NGS Panel Fulgent Genetics
United States | 322 | 75 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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.
