The CDL offers targeted mutation analysis for previously identified mutations in all of the genes for which full sequence analysis is available.
Known mutation testing should be selected if a mutation was previously identified in the family by the Collagen Diagnostic Laboratory (we tested a relative of the patient) or by another laboratory (please provide a copy of the original mutation report if testing was not completed at our laboratory). Known mutation testing may also be ordered for individuals who wish to have clinical laboratory confirmation of mutations or variants identified through research laboratories.
Please note: The cost of Known Mutation/Familial Variant testing will increase to $300 beginning January 1, 2017.
Sanger Sequencing: The coding exon and flanking intron sequences known to contain the variant are amplified by PCR in a single reaction and then sequenced by automated sequencing.
BLOOD IS PREFERRED.
BLOOD: 2 EDTA (purple top) tubes
Whole blood may be stored up to 5-7 days in the refrigerator before shipping.
Single site (known familial mutation or variant): 5 µg DNA
Oragene Saliva samples are accepted
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.
For known familial mutations, please provide a copy of the original mutation report if testing was not completed at our laboratory.
If testing was not completed at our laboratory, and a positive control sample is available, there will be no charge to test any samples used as positive controls.
Ship sample at room temperature with overnight delivery.
How to Order
CPT Code & Cost
Known Mutation Testing of COL1A1, COL1A2, TGFBR1, TGFBR2, FBN1 and ACTA2
|81403||Targeted mutation analysis for familial or known mutation, single exon|
Known mutation testing of all other genes (COL3A1, SMAD3, P3H1, etc)
|81479||Targeted mutation analysis for familial or known mutation, single exon|