List of diseases covered by Neurofibromatosis NGS panel

List of diseases covered by
Neurofibromatosis NGS panel

Gene Condition
CCND1 von Hippel-Lindau syndrome, modifier of
LZTR1 Schwannomatosis-2, susceptibility to
NF1 Neurofibromatosis-Noonan syndrome;
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1;
Watson syndrome
NF2 Meningioma, NF2-related, somatic; Neurofibromatosis, type 2;
Schwannomatosis, somatic
SMARCB1 Rhabdoid tumor predisposition syndrome 1;
Schwannomatosis-1, susceptibility to; Coffin-Siris syndrome 3
SPRED1 Legius syndrome
TSC1 Tuberous sclerosis complex
TSC2 Tuberous sclerosis complex
VHL von Hippel-Lindau syndrome

Neurofibromatosis NGS panel

Neurofibromatosis NGS panel

Genes:
(full coding
region)
CCND1, LZTR1, NF1, NF2, SMARCB1, SPRED1, TSC1, TSC2, VHL

List of diseases covered by the panel


Lab method: NGS panel with CNV analysis

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form