| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863, X-linked dominant (X-linked dominant chondrodysplasia, Chassaing-Lacombe type) (HDAC6 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
|
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863, X-linked dominant (X-linked dominant chondrodysplasia, Chassaing-Lacombe type) (HDAC6 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
|
Hydrocephalus Panel PreventionGenetics, part of Exact Sciences
United States | 41 | 38 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences
United States | 191 | 141 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada | 1 | 1 | - C Sequence analysis of the entire coding region
|
HDAC6 Single Gene Fulgent Genetics
United States | 34 | 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
|
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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.
