Several of our new tests include:
- NR3C2 gene sequencing for
autosomal dominant pseudohypoaldosteronism type 1
- MLPA for TWIST1 deletions associated
with Saethre-Chotzen Syndrome
-
GNAS methylation testing for imprinting
defects in pseudohypoparathyroidism types 1a and 1b (PHP1a and PHP1b).
- NKX2-1 sequencing and MLPA for
mutations associated with Choreoathetosis, Hypothyroidism, Neonatal
Respiratory Distress Syndrome and Benign Hereditary Chorea
- SCARB1 testing for a SNP
associated with elevated HDL cholesterol and progesterone deficient
infertility
- Two new genes (POLR1D
and POLR1C) associated with Treacher Collins Syndrome, plus
MLPA for TCOF1 deletions
- SMAD3 sequencing for
aortic aneurysm phenotypes
- Molecular testing for
several Peroxisomal Disorders: X-Adrenoleukodystrophy, Zellweger
Spectrum Disorders, and Rhizomelic Chondrodysplasia Punctata Type 1
Helpful resources on the DNA Diagnostic Lab web site:
A reminder about
billing:
- All patients
requesting that we bill insurance for testing
must meet the requirements set forth in the
laboratory's billing policy. In addition,
patients must sign the Authorization and
Assignment form and submit this form with the
sample. Click here to
review our billing policies and options.
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