NGS Congenital Contractures Panel

 

Disorders

Congenital Contracture Syndrome
Multiple Pterygium Syndrome
Arthrogryposis
Myasthenic Syndrome

Gene Names
ACTA1 CHRND ECEL1 LMNA PIEZO2 SKI ZBTB42
ADCY6 CHRNE ERBB3 MUSK PIP5K1C SLC18A3 ZC4H2
ADGRG6 CHRNG ERCC6 MYBPC1 PITX1 SLC39A13 ZMPSTE24
ALG2 CHST14 FBN1 MYH2 PLOD2 SLC5A7  
ANTXR2 CNTN1 FBN2 MYH3 PLOD3 TNNI2  
CHAT CNTNAP1 FKBP10 MYH8 PSMB8 TNNT3  
CHMP1A COL3A1 GLDN NALCN RAPSN TPM2  
CHRNA1 DNM2 GLE1 NEB RIPK4 TPM3  
CHRNB1 DOK7 KLHL41 NEK9 SCARF2 UBA1  
Clinical info

This panel consists of 57 genes that have been associated with congenital contractures. Congenital contractures are defined by constrictions or rigidity of connective tissues including muscles, ligaments, and tendons resulting in decreased range of motion and stiffness. Contractures occur in numerous genetic disorders, but the features of these syndromes vary greatly and can affect a wide variety of body systems. Treatment is symptomatic and involves physical and occupational therapy, as well as surgical correction when necessary. While over half of these conditions are inherited in an autosomal recessive manner, many phenotypes caused by changes in the same gene have been reported with either dominant or recessive inheritance. In addition, two conditions demonstrate X-linked recessive inheritance.

List of Genes and Conditions

Indications

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 congenital contractures panel covers the coding region for all 57 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 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

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 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 $3,500

Insurance billing is available for this test. The 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.

NGS Panel Requisition Form

Please submit a completed Requisition Form with all samples.

 

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Molecular Diagnostic Lab Faculty

Clearing Div - do not delete (is not shown)