EDS type VII Testing

Genes

COL1A1, COL1A2

Test Guide

EDS type VII, the Arthrochalasia type, is characterized by congenital hip dislocation, joint hypermobility, soft skin with normal scarring, easy bruising, blue sclerae, small jaw, and hypertrichosis.  It is typically identified in infancy.

Methodology

Sanger Sequencing:  For the sequence analysis of the two type I collagen genes for mutations that result in the EDS type VII phenotypes, genomic DNA surrounding exon 6 is amplified from each gene, COL1A1 and COL1A2, using a total of two primer sets.  The 2 products are screened by polyacrylamide gel electrophoresis.  The coding and flanking regions of exon 6 in both genes are sequenced by automated sequencing in 4 reactions.

Specimen Requirements

BLOOD IS PREFERRED.

BLOOD:
2 EDTA (purple top) tubes
Adults: 5-10cc
Children: 3-5cc
Infants: 2-3cc

Whole blood may be stored up to 5-7 days in the refrigerator before shipping.

DNA:
Single Gene, +/- array (del/dup):15 µg DNA at a minimum concentration of ≥200 ng/µl

SALIVA:
Oragene Saliva samples are accepted

PRENATAL:
Amniocytes or Cultured CVS Cells: Two confluent T-25 flasks of cultured amniocytes or CVS cells, well-labeled as Prenatal Sample. Please call ahead to notify the CDL that a prenatal sample will be coming.

Special Instructions

Blood samples (or DNA) should be well labeled with patient’s full name and an identifying number.

Ship sample at room temperature with overnight delivery.

Clinical information outlining the indication for the requested tests and pertinent medical history and family history is a necessary component of testing. Please include a clinic note when available.

CPT Code & Cost

81479 x 2
$368.00

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