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Selecting the Right Test Just Got Easier: Connective Tissue Disorder Panels Expanded

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We are pleased to announce that our Marfan Syndrome & Aortopathies Panel and our Ehlers-Danlos syndromes panels have been expanded to include a wider clinical spectrum.  

Each of our PhD experts each focuses on a specific subset of the genome. As new publications become available, we curate our gene lists and rise to the challenge to keep our test menu current.  In light of some new publications and at the request of expert clinicians, we have recently expanded a few of our connective tissue disorder panels.  Our goal is to make it easy to select the right test for your patients.

Our Marfan Syndrome & Aortopathies Panel has been expanded to include 30 genes.  
New genes include LOX (familial aneurysms), MAT2A (thoracic aneurysms), PLOD1 (EDS-Kyphoscoliotic form), SMS (Snyder-Robinson syndrome; differential for Lujan syndrome), EFEMP2 (cutis laxa with arterial tortuosity, aneurysms), ELN (SVAS and cutis laxa), and FBLN5 (cutis laxa).  This panel typically provides ≥98% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.

Marfan Syndrome and Aortopathies Sequencing Panel with CNV detection (Test Code #1212):
ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, SMS, TGFB2, TGFB3, TGFBR1, TGFBR2

Our Ehlers-Danlos Syndromes Panel has expanded to 45 genes and was inspired by a new publication by Malfait et al. (2017).   
New genes include C1R, C1S,  DSE, PRDM5, SMAD3, TGFBR1, TGFBR2, RIN2, and COL12A1. This panel provides nearly 100% coverage of all coding exons in all transcripts of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing. TNXB exons 32-44, DSE exon 6 and FLNB exon 1 are not analyzed due to multiple close copies of these sequences in the genome.  If full coverage of TNXB is needed, we can offer that enhancement for an additional $530.  Please order “TNXB full coverage, $530” as a second test on the first page of the Test Requisition Form.

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection (Test Code #1391):
ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6AP1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, C1R, C1S, CHST14, CHST3, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FKBP14, FLNA, FLNB, GGCX, GORAB, LZTS1, PLOD1, PLP1, PRDM5, PYCR1, RIN2, SLC39A13, SMAD3, SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

 

If your patient has unique testing needs, PGxome Custom Panels offers customizable genetic testing. Using whole exome sequencing technology, healthcare providers can order any subset from the list of over 5,000 clinically relevant genes. 

 

Reference
Malfait et al. 2017. American Journal of Medical Genetics.  175: 8-26. PubMed ID: 28306229 The 2017 International Classification of the Ehlers–Danlos Syndromes.