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Tricho-Rhino-Phalangeal Syndrome Types I and III via the TRPS1 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
8269 TRPS1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8269TRPS181479 81479,81479 $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. 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 backbone).

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

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 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

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Tricho-rhino-phalangeal syndrome (TRPS) is a malformation syndrome characterized by craniofacial and skeletal abnormalities. Three types of TRPS have been described. TRPS type I (OMIM#190350) is characterized by sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (Momeni et al. Nature Genet 24:71-74, 2000). TRPS type II (aka Langer-Giedion syndrome, OMIM#150230) shares common clinical manifestations with TRPS I. TRPS type III (OMIM#190351) shows the same dysmorphic features as TRPS I but more severe shortening of all phalanges and metacarpals, and severe short stature (<-2SD). TRPS III has been considered the most severe form of the TRPS spectrum (Ludecke et al. Am J Hum Genet 68:81-91, 2001).

Genetics

Tricho-rhino-phalangeal syndrome (TRPS) is inherited in an autosomal dominant manner. Type I and type III TRPS are caused by variants in the TRPS1 gene, while TRPS type II is a contiguous gene deletion syndrome involving EXT1 gene. TRPS1 encodes a zinc finger transcription factor, which has 2 potential nuclear localization signals (Kaiser et al. Eur J Hum Genet 12:121-126, 2004) and an unusual combination of different zinc-finger motifs including C2H2-type, IKAROS-type, and GATA-type motifs (Momeni et al. Nat Genet 24:71-74, 2000). Most disease-causing variants in TRPS1 are missense, nonsense and frameshift variants. It has been demonstrated that most patients with nonsense variants show the TRPS I phenotype, while patients with missense variants in the GATA-type zinc-finger show the TRPS III phenotype (Momeni et al. 2000; Ludecke et al. Am J Hum Genet 68:81-91, 2001; Hatamura et al. Clin Genet 59:366–367, 2001; Hilton et al. J Hum Genet 47:103-106, 2002; Piccione et al. Am J Med Genet 149A:1837-1841, 2009).

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect disease variants in up to 80% of TRPS I/III cases (Momeni et al. 2000; Ludecke et al. 2001).

Testing Strategy

This test provides full coverage of all coding exons of the TRPS1 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 clinical and radiographic features consistent with TRPS I or TRPS III and family members of patients who have known TRPS1 variants.

Gene

Official Gene Symbol OMIM ID
TRPS1 604386
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Hatamura, I., et.al. (2001). "A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I." Clin Genet 59(5): 366-7. PubMed ID: 11359471
  • Hilton, M. J., et.al. (2002). "Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes." J Hum Genet 47(3): 103-6. PubMed ID: 11950061
  • Kaiser, F. J., et.al. (2004). "Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal." Eur J Hum Genet 12(2): 121-6. PubMed ID: 14560312
  • Ludecke, H. J., et.al. (2001). "Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III." Am J Hum Genet 68(1): 81-91. PubMed ID: 11112658
  • Momeni, P., et.al. (2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I." Nat Genet 24(1): 71-4. PubMed ID: 10615131
  • Piccione, M., et.al. (2009). "Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III." Am J Med Genet A 149A(8): 1837-41. PubMed ID: 19610100

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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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