Osteogenesis Imperfecta via the TMEM38B 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
8683 TMEM38B 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8683TMEM38B81479 81479 $890 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.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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 (Steiner et al. 2013). Approximately 90% of clinically diagnosed OI is caused by pathogenic variants in the COL1A1 and COL1A2 genes, while ~10% is caused by pathogenic variants in the BMP1, CREB3L1, CRTAP, FKBP10, IFITM5, P3H1(also called LEPRE1), PLOD2, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, WNT1, TMEM38B and other undefined genes (van Dijk and Sillence 2014; Valadares et al. 2014).

Genetics

Pathogenic variants in the TMEM38B gene cause autosomal recessive OI (type XIV OI). The TMEMB38 protein may serve as a modulator of intracellular calcium. So far, only a few TMEM38B pathogenic variants were reported: nonsense (1), splicing (1), frameshift (1) and gross deletion (3) (Shaheen et al. 2012; Volodarsky et al. 2013; Cabral et al. 2016; Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in TMEM38B appear to account for a small portion of autosomal recessive Osteogenesis Imperfecta (OI). Pathogenic variants in the TMEM38B gene were found in 3 of 11 studied AR OI families (Shaheen et al. 2012).

Testing Strategy

This test provides full coverage of all coding exons of the TMEM38B 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with symptoms consistent with recessive OI and the family members of patients who have known TMEM38B pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TMEM38B.

Gene

Official Gene Symbol OMIM ID
TMEM38B 611236
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Osteogenesis Imperfecta, Type XIV AR 615066

Related Tests

Name
Osteogenesis Imperfecta via the BMP1 Gene
Osteogenesis Imperfecta via the CRTAP 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

  • Cabral W.A. et al. 2016. Plos Genetics. 12: e1006156. PubMed ID: 27441836
  • Human Gene Mutation Database (Bio-base).
  • Shaheen R. et al. 2012. Journal of Medical Genetics. 49: 630-5. PubMed ID: 23054245
  • Steiner and Basel. 2019. PubMed ID: 20301472
  • Valadares et al. 2014. PubMed ID: 25046257
  • Van Dijk F.S., Sillence D.O. 2014. American Journal of Medical Genetics. Part A. 164A: 1470-81. PubMed ID: 24715559
  • Volodarsky M. et al. 2013. Human Mutation. 34: 582-6. PubMed ID: 23316006

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.

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 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.

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