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Test Code LAB9087 Connective Tissue Disorder Panel

Aliases

Germline testing

Special Collection Notes

Collect specimen according to standard operating procedure

Specimen Type

Whole Blood/Purple Top Tube (K2 EDTA) or Buccal Swab.  

Processing Instructions

If transport is longer than 4 hours send on cold pack

Specimen Volume

  • Optimal Volume: 4.0 ml
  • Minimum Volume: 0.5 ml

Additional Notes

The Precision Diagnostics Laboratory’s Connective Tissue Disorders Panel analyzes 119 genes associated with a broad spectrum of genetically heterogeneous disorders that primarily or secondarily impact connective tissues, including cartilage, skin, ligaments, blood vessels, and other supportive structures. These genetic conditions typically manifest with clinical features such as joint hypermobility, skin elasticity or fragility, vascular anomalies, skeletal deformities, and ocular or craniofacial abnormalities. Genetic testing of these specific genes is critical for accurate diagnosis and management of the associated conditions, reflecting their significant phenotypic variability and complex inheritance patterns. Inherited connective tissue disorders can present via autosomal dominant, autosomal recessive, or X-linked inheritance patterns, often demonstrating variable penetrance and clinical expressivity.

TAT

4 weeks

Method

Next Generation Sequencing

CPT

Varies

Performing Section

PRECISION DIAGNOSTICS

Purpose/Principle

The CHCO Connective Tissue Disorders Panel employs next-generation sequencing technology to detect genomic variants in genes associated with inherited connective tissue diseases. These conditions include but are not limited to Ehlers-Danlos syndrome (EDS), Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), cutis laxa, thoracic aortic aneurysm and dissection, arterial tortuosity syndrome, osteogenesis imperfecta, and various skeletal dysplasias. Additionally, the panel includes genes implicated in syndromic conditions with connective tissue involvement, such as Shprintzen-Goldberg syndrome, Stickler syndrome, and various RASopathies. Furthermore, metabolic and multisystemic disorders that exhibit significant connective tissue manifestations are also assessed.

 

The assay interrogates the coding regions and flanking intronic bases of the cited genes, with the capacity to detect sequence variants, and copy number variants (CNVs). Uniform genomic coverage is achieved through standardized specimen processing and short-read sequencing. Sequencing data are monitored by quality control metrics to ensure high confidence in the accuracy and specificity of the variant calls. The CNV resolution threshold is approximately 1 Mb, although smaller events may be detected depending on regional complexity and data quality.

 

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ARIH1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BRAF, C1S, CBL, CBS, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CRTAP, DCHS1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, HCN4, HRAS, KRAS, LEMD3, LOX, LOXL3, LTBP2, LTBP3, LTBP4, LZTR1, LZTS1, MAP2K1, MAP2K2, MAPK1, MAT2A, MED12, MFAP5, MRAS, MYH11, MYLK, NF1, NOG, NOTCH1, NRAS, NSUN2, P3H1, PKD2, PLOD1, PLOD3, PPP1CB, PRDM5, PRKG1, PTPN11, PYCR1, RAF1, RASA2, RIN2, RIT1, RRAS, RRAS2, RREB1, SHOC2, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SOS1, SOS2, SPARC, SPRED1, SPRED2, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, YWHAZ, ZNF469