How do you test for zellweger syndrome

Is ideal for patients with a clinical suspicion of infantile Refsum disease, neonatal adrenoleukodystrophy, rhizomelic chondrodysplasia punctata or Zellweger syndrome. The genes on this panel are included in the Comprehensive Metabolism Panel. Our over panels cover all medical specialties. The great majority of tests are completed within 28 days. Panels can be customized by adding genes from any of our panel genes or by removing genes from the selected panel. Ordering a single gene or panel for your patient allows you the option to Expand to Exome for up to two years after the initial test results were reported.

Sample Requirements Blood min. In addition, if the patient is affected with a hematological malignancy, DNA extracted from a non-hematological source e. Please note that, in rare cases, mitochondrial genome mtDNA variants may not be detectable in blood or saliva in which case DNA extracted from post-mitotic tissue such as skeletal muscle may be a better option.

Read more about our sample requirements here. Peroxisome biogenesis disorders PBDs include a disease continuum of Zellweger syndrome spectrum. This spectrum includes three similar disorders. Disease onset is typically during childhood, when affected children are hypotonic, have seizures, hepatic dysfunction and distinctive craniofacial dysmorphism. Babies with ZS typically have no developmental progress and die during the first year of life.

PBDs are caused by mutations in the genes encoding proteins important for peroxisome function, assembly or biogenesis. Mutations in these genes results in the accumulation of very long chain fatty acids and branched chain fatty acids. The prevalence of Zellweger syndrome spectrum disorders is estimated at Read more. Due to possible limitations these genes may not be available as single gene tests. The list of associated, gene specific phenotypes are generated from CGD or Mitomap databases.

The technology may have limited sensitivity to detect variants in genes marked with these symbols please see the Panel content table above.

The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics. For additional information, please refer to the Test performance section and see our Analytic Validation. The genes on the panel have been carefully selected based on scientific literature, mutation databases and our experience.

Affected children also show episodes of hemorrhage, including intracranial bleeding. The condition is often slowly progressive, with hearing and vision worsening with time. Some individuals may develop progressive degeneration of the myelin, which may lead to loss of previously acquired skills and ultimately to death.

Refsum disease is characterized by anosmia and early-onset retinitis pigmentosa, which are both universal findings with variable combinations of neuropathy, deafness, ataxia, and ichthyosis 1, 3. Onset of symptoms is variable, ranging from seven months to older than 50 years.

Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems which develop later in life. Peroxisome biogenesis disorders PBD are autosomal recessive disorders characterized by defective peroxisome biosynthesis, assembly, and biochemical functions 3. These genes encode proteins required for peroxisome biogenesis 3.

Peroxisomes are membrane-bound organelles found in almost all eukaryotic cells. They are involved in the catabolism of very long chain fatty acids, branched chain fatty acids, D-amino acids, and polyamines, reduction of reactive oxygen species, and biosynthesis of phospholipids critical for the normal function of mammalian brains and lungs.

Large head. Large head circumference. Intestinal malabsorption. Abnormally small skull. Decreased circumference of cranium. Decreased size of skull. Reduced head circumference. Small head circumference. Little lower jaw. Small jaw. Small lower jaw. Involuntary, rapid, rhythmic eye movements. More grooves in brain.

Premature delivery of affected infants. Preterm delivery. Flattened bony protrusion above eyes. Impaired vision. Loss of eyesight.

Poor vision. Abnormal tongue. Tongue abnormality. Thickened skin folds of neck. Thickened skin over the neck. Hole in heart wall separating two lower heart chambers. Small adrenal glands. High urine amino acid levels. Increased levels of animo acids in urine. Nasal tip, upturned. Upturned nasal tip. Upturned nose. Upturned nostrils. Absent tendon reflexes. High, prominent forehead.

Feet or buttocks of fetus positioned near opening of uterus. Outward turned elbows. Delayed bone maturation. Delayed skeletal development. Decreased muscle tone. Low muscle tone. Narrow, high-arched roof of mouth. Narrow, highly arched roof of mouth. Wide-set eyes.

Widely spaced eyes. Decreased reflex response. Decreased reflexes. Mental retardation, progressive. Progressive mental retardation. Early and severe mental retardation. Mental retardation, severe. Severe mental retardation. Abnormally large tongue. Increased size of tongue. Large tongue. Zygomatic flattening. Front half of foot turns inward. Low or weak muscle tone. Ears rotated toward back of head. Prolonged yellowing of skin in newborn.

Prominent tongue. Tongue sticking out of mouth. Small lung. Underdeveloped lung. Rocker bottom feet. Rocker-bottom feet. Rockerbottom feet. Circular face. Round facial appearance. Round facial shape. Club feet. Club foot. Do you have more information about symptoms of this disease? We want to hear from you. Genetic classification and mutational spectrum of more than patients with a Zellweger syndrome spectrum disorder. Peroxisomes take shape.

Cell Biol. PubMed ID: Steinberg et al. Peroxisome biogenesis disorders. Acta — Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. PubMed ID: Ordering Options We offer several options when ordering sequencing tests.

Once the test has been added log in to myPrevent to fill out an online requisition form. Requisition Form A completed requisition form must accompany all specimens. Billing information along with specimen and shipping instructions are within the requisition form. All testing must be ordered by a qualified healthcare provider.