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Neurofibromatosis Type 1/Legius Syndrome
Alternate test name
NF1
Gene name / Alternate gene name
- NF1
- SPRED1
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing (all genes) by Next Generation Sequencing. Deletion & Duplication analysis by MLPA. Sequencing (all familial variants) by Sanger sequencing.
Expected turn-around time
Pregnancy/STAT: 2 weeks
Routine: 6 weeks
Specimen type
Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA. DNA extracted at an external lab is not accepted for MLPA testing.
For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).
Specimen requirements
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation
Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.
If sample shipment >48 hours, ship on ice.
DNA extracted at an external lab is not accepted for MLPA testing.
Special requirements
Special Instructions for Genome Diagnostics Samples
Please ship us the blood sample within 48 hours of collection.
Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
Canada
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab: molecular.lab@sickkids.ca
Email Cytogenetics: cytogenetics.requests@sickkids.ca
Background and clinical significance
Disease condition
NF1, Von Recklinghausen Disease, Legius Syndrome
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Customer Service
Toll Free: 1-855-381-3212
Local: 416-813-7200