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Achondrogenesis Type 1A via the TRIP11 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
TRIP11 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8003TRIP1181479 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Achondrogenesis is a group of disorders related to incomplete ossification of bones in the skull, spine and pelvis. Radiographic features include extremely shortened limbs, short ribs and severe pulmonary hypoplasia. Most patients are stillborn or die soon after birth due to respiratory failure (Borochowitz, Z. et al. J Pediatr 112(1):23-31, 1988). Clinically, it is divided into three subtypes: 1A (OMIM# 200600, also called Houston-Harris Type), 1B (OMIM# 600972, also called Fraccaro Type), and 2 (OMIM#200610), which are caused by mutations in TRIP11, SLC26A2 and COL2A1, respectively.


Achondrogenesis Type 1A caused by mutations in TRIP11 (Thyroid hormone receptor interactor 11) is inherited in an autosomal recessive manner. GMAP210 protein (Golgi –microtubule-associated protein, GMAP210) coded by the TRIP11 gene is a Golgi apparatus associated protein containing three domains: a N-terminal Golgi binding domain (exons 1 to 7), a central coiled-coil domain (exons 7 to 17) and a C-terminal microtubule-binding domain (exons 18 to 21). Studies suggested that it plays a role in assembly and maintenance of the Golgi ribbon structure around the centrosome and Golgi network, and is also required for the glycosylation and cellular transport of multiple proteins (Ramos-Morales, F. et al. Biochem J 357(Pt 3): 699-708, 2001; Rios, R. M et al. Cell 118(3): 323-335, 2004; Smits, P. et al. N Engl J Med 362(3):206-16, 2010). To date, only six unique causative mutations have been identified in achondrogenesis patients. These mutations are four nonsense and two splicing site mutations (Smits, P. et al., 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity is unknown due to the limited number of patients. Analytical sensitivity may be high because all the reported mutations are point mutations which are expected to be detected by sequencing method. No large deletions/insertions have been reported (Smits, P. et al. N Engl J Med 362(3):206-16, 2010).

Testing Strategy

This test provides full coverage of all coding exons of the TRIP11 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 achondrogenesis, and the family members of patients who have known TRIP11 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TRIP11.


Official Gene Symbol OMIM ID
TRIP11 604505
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Achondrogenesis, Type Ia AR 200600


  • Borochowitz, Z. et al. (1988). “Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.” J Pediatr 112(1):23-31. PubMed ID: 3275766
  • Ramos-Morales, F. et al. (2001). “Two splice variants of Golgi microtubule-associated protein of 210 kDa (GMAP-210) differ in their binding to the cis-Golgi network.” Biochem J 357(Pt3): 699-708. PubMed ID: 11463340
  • Rios, R. M. et al. (2004). “GMAP-210 recruits gamma-tubulin complexes to cis-Golgi membranes and is required for Golgi ribbon formation.” Cell 118(3): 323-335. PubMed ID: 15294158
  • Smits, P. et al. (2010). “Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.” N Engl J Med 362(3):206-216. PubMed ID: 20089971


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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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

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