Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

Rigorous clinical evaluation should precede diagnostic molecular testing. [aetna.com]

rigidity, post-operative myoglobinuria, heat or exercise induce rhabdomyolysis) who are unable or unwilling to undergo contracture testing. [aetna.com]

METHOD: Three patients with bilateral optic atrophy and central scotomas of their visual fields were clinically diagnosed with ADOA. [ncbi.nlm.nih.gov]

scotoma Temporal pallor and atrophy Anomalous configuration DOA110 16 0.3/0.3 -1.75/-1.25 Dyschromatopsia, no specific axis Outer borders normal, mild relative central scotoma Temporal pallor Delayed implicit times Figure 2 Pedigrees of three ADOA families [bmcmedgenet.biomedcentral.com]

Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye. [eyewiki.aao.org]

Visual field testing reveals a central scotoma, a cecocentral scotoma or an enlarged blind spot. There may be extension of the scotoma to the superior temporal field in late stages. OCT shows thinning of the nerve fiber layer. [healio.com]

Cell biological findings suggest that OPA1 is regulated by post-translational mechanisms and we would like to hypothesize that loss of OPA1 function might lead to impaired mitochondrial quality control. [publikationen.ub.uni-frankfurt.de]

Other optic nerve findings suggestive of ADOA include an increased cup-to-disc ratio (48%), temporal gray crescent (31%) and peripapillary atrophy (69%). [healio.com]

The strong association of OPA1 with membranes suggests its anchoring to the inner membrane [21]. [wikigenes.org]

Blueprint Genetics' Plus Analysis (Seq Del/Dup) maximizes the chance to find a molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be a cost-effective first line test if your patient's phenotype is suggestive [blueprintgenetics.com]

Despite recent data suggesting that the condition is more common than previously thought (the estimated minimum prevalence in a population in northern England is 4.07/100.000, or about 1 in 25.000), ADOA is more rarely reported in Asia. [iovs.arvojournals.org]

Optic atrophy is a condition that affects the optic nerve, which carries impulses from the eye to the brain. Optic atrophy type 1 (OA1) is clinically characterized by progressive decrease in visual acuity from early childhood onwards. [blueprintgenetics.com]

Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14 AD/AR 96 390 OPA3 Optic atrophy, 3-methylglutaconic aciduria AD/AR 13 15 POLG POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria [blueprintgenetics.com]

Associated symptoms may include hearing loss, myopathy, ataxia, peripheral neuropathy, dysarthria, optic atrophy, dementia. parkinsonism, and psychiatric problems. [rarediseasesnetwork.org]

Familial Neonatal, 2 5 Seizures, Cortical Blindness, Microcephaly Syndrome 1 Sengers syndrome 3 Senior-Loken Syndrome 4 2 Senior-Loken Syndrome 5 5 Senior-Loken Syndrome 6 5 Senior-Loken Syndrome 7 4 Senior-Loken Syndrome 8 2 Sensory Ataxic Neuropathy, Dysarthria [preventiongenetics.com]

Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]

external ophthalmoplegia and mitochondrial myopathy with cytochrome c oxidase negative and Ragged Red Fibres. [haplogroup.org]

CPEO: Chronic Progressive External Ophthalmoplegia Weakness of eye muscles causing droopy eyelids (ptosis) and inability to move the eyeballs Cause: Single or multiple mtDNA deletions; mtDNA point mutations (A3243G most common) DAD: Diabetes and Deafness [rarediseasesnetwork.org]

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). [ncbi.nlm.nih.gov]

Some individuals display features that fall into distinct syndromes such as chronic progressive external ophthalmoplegia (CPEO), Kearns‐Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Leigh syndrome (LS), mitochondrial encephalomyopathy [aetna.com]

METHOD: Three patients with bilateral optic atrophy and central scotomas of their visual fields were clinically diagnosed with ADOA. [ncbi.nlm.nih.gov]

scotoma Temporal pallor and atrophy Anomalous configuration DOA110 16 0.3/0.3 -1.75/-1.25 Dyschromatopsia, no specific axis Outer borders normal, mild relative central scotoma Temporal pallor Delayed implicit times Figure 2 Pedigrees of three ADOA families [bmcmedgenet.biomedcentral.com]

Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye. [eyewiki.aao.org]

Visual field testing reveals a central scotoma, a cecocentral scotoma or an enlarged blind spot. There may be extension of the scotoma to the superior temporal field in late stages. OCT shows thinning of the nerve fiber layer. [healio.com]