NF1/SPRED1 Comprehensive by NGS
Test Mnemonic
NFIB1
CPT Codes
- 81408 - QTY (1)
- 81479 - QTY (2)
- 81405 - QTY (1)
Aliases
- Legius Syndrome
- Neurofibromatosis 1
- Neurofibromatosis Type 1/SPRED1
- Von Recklinghausen Disease
Includes
- Substitutions (missense, nonsense, splice variants)
- Insertions/deletions/duplications of 1-64 bp
- Single exon or multiple exon deletions/duplications
Performing Laboratory
Univ of Alabama at Birmingham
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 6 mL | Whole blood | EDTA (Lavender) | Ambient | A completed 'NF1/SPRED1 Phenotypic Checklist' must be included with the specimen. Collect 2 EDTA lavender top tubes. |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| Other | Extracted DNA | Other | Ambient | Minimum volume of 25 µL at 3 µg, O.D. value at 260:280 nm = or > 1.8 |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL | Whole blood |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Whole blood: 7 days; Extracted DNA: 48 hours |
| Refrigerated | Whole blood: 7 days; Extracted DNA: Indefinitely |
| Frozen | Whole blood: Unacceptable; Extracted DNA: Indefinitely |
Days Performed
Mon - Fri
Methodology
| Name | Description |
|---|---|
| Deletion/Duplication Analysis | |
| Next Gen Sequencing |
Reference Range
Special Info
Do not ship on ice. A completed 'NF1/SPRED1 Phenotypic Checklist must be included with the specimen.
Clinical Info
Neurofibromatosis Type 1 (NF1) is a completely penetrant, autosomal dominant disorder with a frequency of 1/3500 births in all ethnic populations. NF1 is a progressive disorder, characterized by multiple café-au-lait spots, neurofibromas, and Lisch nodules, although additional features may develop. NF1 is notorious for its variable expression. About 50% of cases are due to new dominant mutations where neither parent has signs of the disorder.