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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Next Gen Sequencing and Deletion/Duplication of NF1 (NF1-NG)
Test Code11547
CPT Codes
81408, 81479<br>This test is not available for New York patient testing<br>Limited Access Code
Preferred Specimen
6 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 25 uL at 3 ug extracted DNA
Other Acceptable Specimens
Saliva collected in OGR-575 DNA Genotek (provided upon request) • Extracted DNA (extracted from lymphocyte cells; a minimum volume 25 uL at 3 ug (O.D. of 260:280nm > or = 1.8; must be extracted in a CLIA or equivalent certified lab)
Instructions
Specimens must be packaged to prevent breakage and absorbent material must be included in the package to absorb liquids in the event that breakage occurs. Also, the package must be shipped in double watertight containers (e.g. a specimen pouch + the shipping company's diagnostic envelope).
Test Requisition Form: Form for Customs (for international shipments)
Note: Detailed and accurate completion of this document is necessary for reporting purposes. The Medical Genomics Laboratory issues its clinical reports based on the demographic data provided by the referring institution on the lab requisition form. It is the responsibility of the referring institution to provide accurate information. If an amended report is necessary due to inaccurate or illegible documentation, additional reports will be drafted with charge.
Test Requisition Form: Form for Customs (for international shipments)
Note: Detailed and accurate completion of this document is necessary for reporting purposes. The Medical Genomics Laboratory issues its clinical reports based on the demographic data provided by the referring institution on the lab requisition form. It is the responsibility of the referring institution to provide accurate information. If an amended report is necessary due to inaccurate or illegible documentation, additional reports will be drafted with charge.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: Not established
Refrigerated: Not established
Frozen: Not established
Refrigerated: Not established
Frozen: Not established
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
No label (patients full name and date of collection) on the specimens • No referring physician's or genetic counselor's names and addresses • No billing information • DNA samples must be extracted in a CLIA or equivalent certified lab
Methodology
Multiplex Ligation-dependent Probe Amplification • Fluorescence In Situ Hybridization
FDA Status
This test was developed and its performance characteristics determined by the Medical Genomics Laboratory. It has not been cleared or approved by the FDA. The laboratory is regulated under CLIA as qualified to perform high-complexity testing. This test is use for clinical purposes. It should not be regarded as investigational or for research.
Setup Schedule
Set up: Varies; Report available: 30 working days
Reference Range
See Laboratory Report
Clinical Significance
Patients with classic Neurofibromatosis type 1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity has not been demonstrated so far associated with this phenotype.