GeneDx offers a molecular test for patients with autosomal dominant Primary Open Angle Glaucoma (POAG) and autosomal recessive Primary Congenital Glaucoma (PCG). In POAG, patients may develop high intraocular pressure, visual field loss, and optic disc damage, ultimately requiring early surgical therapy. The characteristic clinical features of PCG include tearing, photophobia, corneal edema and buphthalmos resulting from elevated intraocular pressure, which can rapidly lead to axonal loss and permanent loss of vision if left untreated. PCG is predominantly caused by mutations in the CYP1B1 gene, while mutations in the genes MYOC, OPTN, and WDR36 are associated with POAG.

GeneDx offers a molecular test for patients with FEVR. FZD4 and LRP5 mutations result in FEVR characterized by impaired vascularization of parts of the peripheral retina leading to various secondary complications, such as retinal neovascularization, dragged macula, exudation vitreous hemorrhage, retinal fold and retinal detachment.

GeneDx expands its metabolic disorders test menu to include full sequence analysis for the following metabolic disorders:

GeneDx introduces molecular diagnostic testing for Hyper IgE Syndrome, also known as Job's syndrome. This multisystemic disorder is an immunodeficiency with elevated IgE levels in the serum and early-onset eczema reminiscent of atopic dermatitis. Affected individuals have an impaired resistance to skin and pulmonary infections bacterial infections, leading to recurrent abscesses (boils) and cysts. A variety of other abnormalities involving the bones, teeth and soft tissues may also be present.

GeneDx announces genetic testing for Goltz syndrome or Focal Dermal Hypoplasia (FDH), extending our test menu for Ectodermal Dysplasia syndromes. Goltz syndrome is an X-linked dominant disorder primarily affecting females. Individuals have abnormalities of skin (focal hypoplasia/atrophy of skin with herniation of fat into the dermal layer), hair (sparse, brittle and patchy), teeth (hypo/oligodontia, pitting and abnormal shape), nails (dystrophic or missing), eyes (coloboma, micro/anophthalmia or aniridia), limbs and digits. Short stature, breast anomalies, facial dysmorphism and mental retardation can also occur.

GeneDx now offers its third version of its high-resolution whole-genome oligonucleotide array CGH platform (GenomeDx). The new version 3 has a genome-wide coverage with average probe spacing of 37 kb and additional probe density (9-17 kb resolution) at over 150 clinically relevant loci (place link to table here). Specific dosage-sensitive genes have also been selected to contain ultra-high probe density (300bp-1 kb resolution).

The diagnostic workup of ASD patients is challenging and complex. In February of 2008, the American College of Medical Genetics endorsed a practical, step-wise approach to diagnosing the genetic causes of autism and related disorders. Based on these recommendations, GeneDx has developed AutismDx, a comprehensive tiered genetic testing approach tailored to the clinical characteristics of a patient with autism or ASD.

GeneDx expands its metabolic disorders test menu to include full sequence analysis for the following metabolic disorders:

Biotinidase Deficiency (BTD)
Propionic Acidemia (PCCA, PCCB)
3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1, MCCC2)