Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

TTR Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TTR
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differentiation between cardiac amyloidosis and other cardiomypopathies
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
363
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81404x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Cardiology Billing Policy
ICD Codes:
  • 425.7: Nutritional and metabolic cardiomyopathy; Code first underlying disease, as: amyloidosis (277.30-277.39), beriberi (265.0), cardiac glycogenosis (271.0), mucopolysaccharidosis (277.5), thyrotoxicosis (242.0-242.9)
  • 277.39: Other amyloidosis, Hereditary cardiac amyloidosi,s Inherited systemic amyloidosis, Neuropathic (Portuguese) (Swiss) amyloidosis, Secondary amyloidosis
  • 277.3: Amyloidosis, unspecified Amyloidosis NOS
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Seikijima Y et al. Transthyretin amyloidosis, In: GeneReviews. Last Update: March 15, 2006. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tfap
  2. Hou et al. (2007) Transthyretin and familial amyloidotic polyneuropathy FEBS 274, 1637-50
  3. Jacobson DR et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans. New Eng. J. Med. 336: 466-473, 1997
  4. Coelho T et al. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J. Med. Genet. 31: 293-299, 1994
  5. Holmgren G et al. Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J. Med. Genet. 31: 351-354, 1994
  6. Ikeda S et al. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Europ. Neurol. 32: 308-313, 1992
  7. Holmgren G et al. Homozygosity for the transthyretin-met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin. Genet. 41: 39-41, 1992
  8. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
  9. Ando, Y. et al. (2005) Transthyretin-related Familial Amyloidotic Polyneuropathy Arch Neurol 62, 1057-62
  10. Saraiva, M.J.M. (2001) Transthyretin Mutations in Hyperthyroxinemia and Amyloid Disease Hum Mutat 17, 493-503
  11. Sekijima et al. (2005) The biological and chemical basis for tissue-selective amyloid disease Cell 121, 73-85

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