NKX2-1 Gene Sequence
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order 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 Codes: | 81479 x1, 81479 x1 | ||
| 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: | |||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 15 mL (adult); 9 mL (pediatric) |
| Minimum\Peds Volume: | 6 mL (adult); 3 mL (pediatric) |
| Container: | Purple (EDTA) |
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. |
| Stability: | Stability: Room temperature for 36 hours or 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. |
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