Home
[Available Tests]
[Submission]
[Forms]
[Announcements]
[Links]
[Contact Us] |
|
The DNA Diagnostic Laboratory
offers sequence based assays for the following disorders
in conjunction with the Peroxisomal Diseases
Laboratory at the Kennedy Krieger Institute.
- Adrenoleukodystrophy,
X-linked (ABCD1 gene; full sequencing,
targeted testing, and Southern blot)
- Rhizomelic
Chondrodysplasia Punctata, Type 1 (Sequencing of
select exons of PEX7)
- Peroxisomal
Biogenesis Disorders - Zellweger Syndrome
Spectrum; (Sequencing of select exons of PEX1,
PEX2, PEX10, PEX12 and PEX26)
This
testing cannot be ordered directly through the DNA
Diagnostic Lab. All samples must be referred from the Peroxisomal
Diseases Lab. Please contact Steven Steinberg, PhD
at:
Phone: 443-923-2760
Fax: 443-923-2755
Email: steinbergs@kennedykrieger.org
|