Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

XomeDxPlus (WES + mtDNA Sequencing and Deletion Testing)

FORMS AND DOCUMENTS

TEST DETAILS

Clinical Utility:
  • Determination of a clinical diagnosis
  • Identification of gene implicated in genetic disease
  • Recurrence risk assessment
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
690
Turnaround Time:
8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)

BILLING

CPT Codes:
Please email GeneDxBilling@GeneDx for CPT codes.
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View XomeDx Billing Policy
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Singleton AB. Exome sequencing: a transformative technology. Lancet Neurol. 2011 Oct;10(10):942-6.
  2. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep;42(9):790-3. Epub 2010 Aug 15.
  3. Ku CS, Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet. 2011 Apr;129(4):351-70. Epub 2011 Feb 18.
  4. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27;12(11):745-55.

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