SMCHD1 Mutation Analysis with Interpretation
| Label Mnemonic: | SMCHD1 |
| Epic code: | LAB8079 |
| Downtime form: | Doctor/Provider Orders - Pathology Molecular |
Molecular Pathology
6240 RCP
384-9568
6240 RCP
384-9568
Specimen(s):
Whole Blood
Collection Medium:
 |
| Pink top tube 6 mL (K2-EDTA) |
Minimum:
Adult Minimum: 3 mL whole blood in pink top tube (EDTA)
Children Minimum: 3 mL whole blood in pink top tube (EDTA)
Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.
Testing requires a dedicated collection tube.
Children Minimum: 3 mL whole blood in pink top tube (EDTA)
Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.
Testing requires a dedicated collection tube.
Delivery Instructions:
Deliver immediately or refrigerate if held overnight. Holding or shipping samples over weekends or holidays is not recommended. DO NOT FREEZE.Testing Schedule:
Weekly
Turn Around
Time:
21 days
Comments:
An extracted DNA sample is acceptable for D4Z4 methylation testing and for SMCHD1 sequencing. Minimum acceptable DNA amount is 50 μl at 0.25 μg/μl concentration. Extracted DNA is only accepted from CLIA Certified Laboratories.
Methodology:
Massively parallel Next Generation DNA sequencing by synthesis,
semiconductor technology, Ion Personal Genomics Machine.
CPT Code:
81479