SMCHD1 Mutation Analysis with Interpretation

Label Mnemonic:	SMCHD1
Epic code:	LAB8079
Order form:	FSHD1 and FSHD2 Requisition FSHD1 and FSHD2 International Requisition
Supply order:	Supply Order Form
Billing:	Billing Policies
CPT code:	81479

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.

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.

Sample Processing:

Do Not Centrifuge.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original container.

Sample Storage:

Refrigerate the whole blood if it is necessary to be held overnight. Holding samples over weekends or holidays is not acceptable. DO NOT FREEZE.

Transport Instructions:

Recommend early AM overnight shipping or equivalent if not on courier service.
Place requisition into outside pocket of bag.
Ship refrigerated.

CPT Code:

81479