PDH Complex and Mitochondrial Respiratory Chain Complex V Deficiency Panel (BCM-MitomeNGS - LG5830
| Sunquest Code: | XMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Send Outs Misc Test |
| Methodology: | Targeted capture followed by massively parallel sequencing | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Thur; results are reported within 56 days. | ||
| Special Instructions: | 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. Specimen must arrive within 48 hours of collection. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 5 mL |
| Minimum\Peds Volume: | 3 mL |
| Container: | Purple (EDTA) |
Processing and Shipping
| Specimen Processing: | Do not process. |
| Shipping Instructions: | Ship overnight at room temperature in an insulated container. Must arrive within 48 hours of collection. |
| Test Performed at or Referral Lab | Lab Sendouts (Baylor Genetics) |
| Referral Lab number: | 2185 |
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