Johns Hopkins DNA Diagnostic Laboratory

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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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

2013 CPT Code:  81404

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

2013 CPT Code:  81403

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.


Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on von Hippel Lindau Syndrome.

Link to the General Test Information page for a discussion of the uses and limitations of genetic testing

Link to Patient and Family Page for general resources on genetic testing.