NKX2-1 Gene Sequence - LG5787


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Methodology:Sanger and/or NextGen sequencing (NGS) of the coding regions and intron-exon boundaries of NKX2-1; Multiplex ligation-dependent probe amplification (MPLA) for gene deletion
CPT Code:81479, 81479
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur before 1300; results are reported within 4-8 weeks.
Special Instructions:If your patient has a low white cell count, please call the testing lab for minimum volumes at 410-955-0483. A completed requisition must accompany each specimen. See Associated Links. A signed informed consent in the patient's medical record is required. The consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Associated Links:

Genetic Testing Consent Form, John Hopkins Requisition Form



Collection Instructions

Specimen:Blood
Optimal Volume:15 mL (adult); 9 mL (pediatric)
Minimum\Peds Volume:6 mL (adult); 3 mL (pediatric)


Processing and Shipping

Specimen Processing:Do not process.
Shipping Instructions:Ship overnight at room temperature to arrive within 36 hours. Alternately, samples are stable refrigerated for 7 days.
Test Performed at or Referral Lab Lab Sendouts  (John Hopkins DNA Diagnostic Laboratory)


Interpretive

Reference Range:By report.
Use:Identification of causative mutations in known or highly suspicious cases of Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress; rule out of inherited causes of severe respiratory distress and/or hypothyroidism; diagnostic or presymptomatic testing of at risk relatives of a proband; predictive prenatal resting when a familial mutation is known.


Click HERE to Report test errors or omissions.
*If no email program is associated with this computer, please contact:
systemlabguide@fairview.org for TestID: 5787"