Craniosynostosis with Acanthosis Nigricans

CROUZON WITH ACANTHOSIS NIGRICANS: (FGFR2 & 3)

A unique combination of craniosynostosis combined with acanthosis nigricans has been found to be caused by a subset of mutations on the FGFR2 and 3 genes. This condition combines the cranial dysmorphologies that are a result of premature closure of the sutures between the bones of the skull, with a skin condition that results in the coarsening and discoloration of skin at joint flexure points such as elbows, armpits and neck.

It may be spontaneous, or inherited in an autosomal dominant manner. In the inherited form, the disease is considered fully penetrant. In order to most efficiently and economically deal with the problems in diagnosis of this unique disorder, this test combines the usual testing for specific regions of FGFR2 and 3, with other unique areas on the FGFR2 and 3 genes.

REASONS FOR REFERRAL:

To identify the cause of the syndrome.
To establish whether symptoms are spontaneous or inherited within a family.
To evaluate the risk of having a child with one of these syndromes.
Individuals at risk who wish prenatal diagnosis.

TESTING METHODOLOGY:

PCR analysis and DNA sequencing of exon 7,9, and 11 of the FGFR2 gene, exon 10 of the FGFR3 gene, and point mutation testing of the FGFR3 gene (Pro250Arg).

SPECIMEN REQUIREMENTS:

Blood EDTA (purple top) tubes:

Newborn: minimum 1-2 mL

Child/Adult: prefer 2 tubes of 3-5 mL

Prenatal testing: Please contact the laboratory for instructions.

A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.

TURNAROUND TIME: 15 working days

CPT CODES: