Point pathogenic variant (A) + LOH |
Yes - need second tumour* |
MLPA + point pathogenic variant A or testing for heterozygosity at intronic CA repeat + pathogenic variant A |
Point pathogenic variant (A) |
Only necessary to test for point pathogenic variant A |
Point pathogenic variant (A) + LOH + MLPA normal |
Yes - confirms mitotic recombination |
Only necessary to test for point pathogenic variant A |
Not required |
Only necessary to test for point pathogenic variant A |
Point pathogenic variant A + point pathogenic variant B |
Yes - need second tumour* - ensure at full dosage as could be multifocal |
Test offspring for both point pathogenic variant A and point pathogenic variant B |
Point pathogenic variant A + LOH |
Only necessary to test for point pathogenic variant A |
Point pathogenic variant A, no second hit, no LOH |
No - need second tumour* |
No definitive test to exclude NF2 |
Point pathogenic variant A |
Only necessary to test for point pathogenic variant A |
Point pathogenic variant A, no second hit, no LOH |
No - need second tumour* |
No definitive test to exclude NF2 |
Point pathogenic variant A not present no LOH |
No definitive test to exclude NF2 |
Point pathogenic variant A, no second hit, no LOH |
No - need second tumour* |
No definitive test to exclude NF2 |
Point pathogenic variant A not present, but LOH |
Test for inheritance of lost allele: patient mosaic for pathogenic variant on retained allele |
Point pathogenic variant A + MLPA whole gene deletion and LOH |
Yes - need second tumour* |
MLPA + point pathogenic variant A |
No point pathogenic variant A, but MLPA + LOH |
MLPA-patient mosaic for whole gene deletion |
Point pathogenic variant A + MLPA exons 1-4 deletion and LOH for intragenic marker only for intrage |
Yes - need second tumour* |
MLPA + point pathogenic variant A |
No point pathogenic variant A, but MLPA 1-4 |
MLPA-patient mosaic for exons 1-4 deletion |
No point pathogenic variant, but LOH^ |
No - need second tumour* |
Test for inheritance of lost allele and MLPA, patient mosaic for pathogenic variant on retained allele |
|
Patient may be mosaic for MLPA detectable deletion or a point pathogenic variant on the retained allele |
Nil identified^ |
No - need second tumour* |
No test available |
Point pathogenic variant A |
No test available |
Nil identified^ |
No - need second tumour* |
No test available |
Point pathogenic variant A + LOH |
MLPA + point pathogenic variant A: first tumour may have been contaminated with normal material and patient mosaic for point pathogenic variant or deletion |