CLIA Lab Testing of Research Results

Test Name: Clinical Verification of a Research Results.

Test Code: CLVRS

Test Methodology:

High quality, patient genomic DNA is isolated using standard MMGL-MGL protocols. The DNA is analyzed for the presence of a specific mutation, aberration or variation using an appropriate method; applicable methods include fluorescent dideoxynucleotide sequencing, various SNP-detection methods, and copy number detection using semi-quantitative, or quantitative, PCR or blotting.

Ordering:

A specimen with less than the minimum volume may be accepted for testing with pre-approval from MMGL staff.

Cancellation of a test (due to insufficient volume, clotting, hemolysis, poor DNA quality etc.) is performed by MMGL Laboratory staff.

Storage:

EDTA whole blood specimens may be stored at room temperature for 1 day or refrigerated at 2°C to 8°C for up to 5 days.

DNA may be stored in the r

Container:

Lavender top (EDTA) tube Genomic DNA solution in 1 X T.E (pH 7.5 - 8.0) buffer (must pass MMGL-MGL quality control analysis before use).

Normal Volume:

5-10 mL EDTA whole blood.

5-10 microgram of highly purified genomic DNA [at a concentration of >0.05 mg/mL (50 mg/mL)].

Minimum Volume: 3 mL EDTA whole blood

3 microgram of highly purified genomic DNA [at a concentration of >0.05 mg/mL (50 mg/mL)].

OFFSITE Collection:

Collect whole blood in a lavender-top (EDTA) tube. Transport the blood tube to the lab within 24-48 hours. For DNA samples, ship overnight at room temperature or with ice-packs or dry-ice. A UMHS/MMGL Informed Consent document completed and signed by the patient (or legally authorized representative) and ordering physician is mandatory for this test.

If desired, an informed consent form can be obtained from the MMGL Molecular Genetics Laboratory, please call (734) 615-2429 during business hours Monday to Friday.

Days Set Up:

Monday - Friday

Analytic Time:

6-12 weeks.

Reference Range :

Interpretative report provided.

Test Usage:

This assay can be used to detect and/or confirm the presence of a specific mutation, aberration or variation, previously detected in the patient or a family member in a research laboratory, or in another clinical laboratory.

Contraindications:

None.

Test Limitations:

This is a custom assay, which is designed and validated for a specific mutation in a specific DNA segment. This assay may not detect other aberrations in the segment being analyzed, or changes in other regions of the genome that may be causative.

Additional Information:

Physicians must contact the MMGL-MGL laboratory at (734) 615-2429 prior to sending samples for new testing. The ordering physician must provide a known positive control sample, which can be used by the MMGL-MGL to design, test and validate the custom assay. This sample must meet the same quantity and quality parameters, as described for the patient sample. No results or reports will be provided for the positive control sample! This analysis may produce results that are complex. Hence medical genetic evaluation and genetic counseling prior to and after testing, to explain the possible results and the implications, is strongly recommended.