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Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4815 PLOD1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4815PLOD181479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Ehlers-Danlos syndrome, kyphoscoliotic form (EDS VIA; OMIM#225400) is a rare connective tissue disorder characterized by progressive kyphoscoliosis, joint hypermobility, smooth, hyperelastic and fragile skin, muscular hypotonia and scleral fragility and rupture of the globe. It should be also noted that clinical manifestations overlap among different types of EDS. Some patients may also present Marfanoid habitus, congenital myopathy, delayed motor development, and dysmophic features. Patients with severe kyphoscoliotsis are at risk for rupture of medium-sized arteries (Pousi et al. Mutat Res 432:33-37, 2000; Rohrbach et al, Orphanet J Rare Disease 6:46, 2011; Yeowell & Steinmann. GeneReviews. 2013).

Genetics

Ehlers-Danlos syndrome (EDS), kyphoscoliotic type is inherited in an autosomal recessive manner and is caused by mutations in PLOD1. PLOD1, located on 1p36.2 (OMIM#153454), encodes the enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1). Deficiency of the enzyme PLOD1 results in a deficiency in hydroxylysine-based pyridinoline cross-links in collagens. An intragenic duplication of exons 10-16 caused by an Alu-Alu recombination in introns 9 and 16 is the most common causative allele, with a frequency of ~18% among patients with EDS VI (Pousi et al, Am J Hum Genet 55:899-906, 1994; Yeowell et al. Eur J Dermatol 15:353–358, 2005). The second most common causative mutation in PLOD1 occurs in exon 14 and results in chain termination at codon 511 for tyrosine (p.Tyr511*). The allele frequency of this mutation in EDS VI cases is about 10% (Yeowell et al. Eur J Dermatol 15(5): 353-358, 2005). The remaining reported mutations include missense, nonsense, splicing, frameshift mutations as well as gross deletions of single or multiple exons.

Clinical Sensitivity - Sequencing with CNV PG-Select

Using cDNA analysis, duplication analysis and DNA sequencing, Giunta et al. (Molecular Genetics and Metabolism 86(1-2):269-276, 2005) identified POLD1 mutations in 9 out of 12 unrelated patients who were clinically diagnosed with EDS type VIA. PLOD1 mutations were also detected in 13 patients who had an abnormal ratio of urinary lysyl pyridinolines to hydroxylysyl pyridinolines crosslinks (Rohrbach et al, Orphanet J Rare Disease 6:46, 2011). The common intragenic duplication of exons 10-16 in the PLOD1 gene cannot be detected by this method.

Testing Strategy

This test provides full coverage of all coding exons of the PLOD1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with clinical and/or biochemical features consistent with EDS VI and family members of patients who have known PLOD1 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PLOD1.

Gene

Official Gene Symbol OMIM ID
PLOD1 153454
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient AR 225400

Related Test

Name
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 Gene

Citations

  • Giunta et al. (2005). PubMed ID: 15979919
  • Pousi et al. (1994). PubMed ID: 7977351
  • Pousi et al. (2000). PubMed ID: 10729709
  • Rohrbach et al. (2011). PubMed ID: 21699693
  • Yeowell & Steinmann. (2013). PubMed ID: 20301635
  • Yeowell et al. (2005). PubMed ID: 16172044

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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