COL1A1 Sequencing

Mutations in COL1A1 and COL1A2 are associated with osteogenesis imperfecta (OI) types I, II, III, and IV and Ehlers Danlos syndrome arthrochalasia type also known as types VIIA and VIIB (EDS VIIA and VIIB). Both conditions are inherited in an autosomal dominant manner.

EDS VIIA/B is characterized by congenital hip dislocation, extreme joint laxity, recurrent joint subluxations, and minimal skin involvement typically velvety, hyperextensible skin. Other possible features include short stature, mild bone fragility leading to fractures, kyphoscoliosis, hypotonia, and delayed gross motor skills.

This laboratory performs Sanger sequencing of the COL1A1 gene.

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Ordering

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Test Code
S0311

Turn Around Time
3-5 weeks

Billing

CPT Code
81408×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
COL1A1

Methods
Sanger