NGS Connective Tissue Panel

 

Disorder Connective Tissue Disorders
Gene Names

ABCC6

COL3A1

PLOD1

ACTA2

COL5A1

PRDM5

ACVR1

COL5A2

SKI

ADAMTS2

ELN

SLC2A10

ATP6V0A2

FBLN5

SLC39A13

ATP7A

FBN1

SMAD3

CBS

FBN2

TGFB2

CHST14

FKBP14

TGFBR1

COL11A1

MYH11

TGFBR2

COL1A1

MYLK

TNXB

COL1A2

NOTCH1

ZNF469

COL2A1

PKD2

 
Clinical info

This panel consists of 35 genes associated with various forms of connective tissue disorders. Many patients with a suspected connective tissue disorder will present with similar features due to the clinical variability and the variable expressivity among this group of disorders. Making the specific diagnosis can be important in determining the appropriate medical management for features such as aortic dilatation or abnormal wound healing.

Indications This panel may be particularly useful for patients with a non-specific presentation who do not fit the typical phenotype for a specific connective tissue disorder.

For patients with a specific suspected connective tissue disorder, individual gene sequencing should be considered first.

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Detection The current design of the connective tissue panel covers the coding region for all 35 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution testing whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.
Associated Tests

The following genes can also be ordered as individual sequencing tests:

ATP7A

FBN1

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 8-10 weeks
Prenatal testing

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81479
Cost $3500

Insurance billing is available for this test. The Insurance Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

Find out more