von Hippel Lindau
Syndrome
VHL
analysis can be ordered as a complete test
(sequencing plus MLPA) or as a reflex
test (MLPA if sequencing is negative).
|
| Gene: |
|
VHL
|
| Test: |
|
1. Direct DNA analysis of the coding
region and splice junctions;
2. MLPA for deletions |
CPT Codes:
|
|
Gene Sequencing: 83891 x 1
83898 x 3
83904 x 6
83909 x 6
83912 x 1
MLPA (multiplex
ligation-dependent probe amplification) gene deletions after negative
sequence:
83896 x 3
83900 x 1
83909 x 1
83914 x 1
83912 x 1
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| Sensitivity: |
|
Point
mutations detectable by sequencing represent 72% of VHL
mutations. Deletions, detectable by MLPA, comprise
the remaining 28% of mutations, Sequencing plus MLPA will detect a mutation in >
95% of VHL patients.
|
| Sample
Requirements: |
|
For
tests utilizing MLPA, we are only able to accept whole blood
drawn in EDTA (purple or lavender top) tubes and Qiagen Puregene
extracted DNA.
|
| Cost: |
|
Sequencing: $542
MLPA after negative sequence: $429 |
| Turn
Around Time: |
|
Sequence:
3 to 4 weeks
MLPA: up to 4 weeks |
| Special Considerations |
|
Relevant clinical history is
requested to aid in result interpretation. If targeted testing for a
known mutation is desired, please speak with a
genetic counselor prior to shipping a specimen.
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