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Osteogenesis Imperfecta via the CRTAP Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
CRTAP 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8487CRTAP81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal disorder characterized by frequent bone fractures with or without minimal trauma. Clinical signs of OI can range from mild to severe. In addition to bone fractures, patients may have scoliosis, bowing of long bones, short stature, blue sclera, hearing loss, dentin defects, muscle weakness or joint laxity. The incidence is approximately 6-7/100,000 (Dijk et al. 2012). ~90% of clinically diagnosed OI is caused by mutations in the COL1A1 and COL1A2 genes, while ~10% is caused by mutations in the CRTAP, FKB10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, IFITM5, BMP1, TMEM38B and other undefined genes (Dijk et al. 2012; Valadares et al. 2014).

Genetics

Mutations in the CRTAP gene cause a rare severe form of autosomal recessive type VII OI. Patients may present prenatal onset of bone fractures and progressive bone deformity, as seen in type II and type III OI. CRTAP belongs to CRTAP/LEPRE1/ PPIB complex that may play a role in processing helical folding of the collagen molecules. To date, approximately 20 unique causative mutations have been identified. They are nonsense, missense, small deletion/insertion and splicing mutations. So far, only one gross deletion in the CRTAP gene has been reported (Barnes et al. 2006; Dijk et al. 2009; Caparrós-Martin et al. 2013, Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

CRTAP Mutations were identified in 1 out of 10 clinically diagnosed autosomal recessive OI families (Caparrós-Martin et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the CRTAP gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with symptoms consistent with autosomal recessive OI type VII, who have no mutations in COL1A1 and COL1A2, and the family members of patients who have known CRTAP mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CRTAP.

Gene

Official Gene Symbol OMIM ID
CRTAP 605497
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Osteogenesis Imperfecta, Type VII AR 610682

Related Tests

Name
Osteogenesis Imperfecta via the BMP1 Gene
Osteogenesis Imperfecta via the FKBP10 Gene
Osteogenesis Imperfecta via the IFITM5 Gene
Osteogenesis Imperfecta via the P3H1 / LEPRE1 Gene
Osteogenesis Imperfecta via the SERPINF1 Gene
Osteogenesis Imperfecta via the SERPINH1 Gene
Osteogenesis Imperfecta via the SP7 Gene
Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene

Citations

  • Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, et al. 2006. Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta. New England Journal of Medicine 355: 2757-2764. PubMed ID: 17192541
  • Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M. 2013. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Am. J. Med. Genet. A 161A: 1354-1369. PubMed ID: 23613367
  • Dijk FS Van, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. 2012. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. European Journal of Human Genetics 20: 11-19. PubMed ID: 21829228
  • Dijk FS Van, Nesbitt IM, Nikkels PGJ, Dalton A, Bongers EMHF, Kamp JM van de, Hilhorst-Hofstee Y, Hollander NS Den, Lachmeijer AMA, Marcelis CL, Tan-Sindhunata GMB, Rijn RR van, et al. 2009. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet 17: 1560-1569. PubMed ID: 19550437
  • Human Gene Mutation Database (Bio-base).
  • Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B. 2014. What is new in genetics and osteogenesis imperfecta classification? Jornal de Pediatria 90:536-41. PubMed ID: 25046257

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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2) Select Additional Test Options

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