Monthly Archives: July 2017

Expanded SCA Repeat Expansion Testing Now Available

Approximately 50-80% of ataxia cases are caused by repeat expansions, which are not detected by standard sequencing analysis. We recently launched the addition of the 5 most common SCA repeat expansions into our Ataxia/Episodic Ataxia Panels to meet this need. To further support our comprehensive ataxia options and provide the most sensitive testing possible, MNG Laboratories has further expanded our SCA repeat expansion portfolio to include SCAs 8, 10, 12, 17, 36 and DRPLA. MNG Laboratories is proud to announce the launch of 3 new tests: We also went ahead and updated two of our existing NGS panels to reflect our expanded SCA portfolio:   We strive to give you the best answers possible when you trust us with your patients’ samples. MNG constantly endeavors to provide you with actionable results. Utilizing our proprietary Genome MaNaGer™ pipeline and Neurogenetic Answers™ reporting process, we aim to reduce the distraction of unrelated variants of uncertain significance.

Case Study – Late Onset Seizures in Pyridoxamine 5′-Phospate oxidase (PNPO) deficiency

Sarah Weatherspoon, William A. Langley, Kelly Ward, Kristie Patterson, Peter L. Nagy, Keith Hyland

PNPO deficiency is an autosomal recessive disorder that leads to pyridoxal 5’-phosphate deficiency and typically results in neonatal or early onset seizures. The latest age reported for presentation is 5 months in an infant with infantile spasms (Mills et al 2014). Here we reemphasize that PNPO deficiency can respond to pyridoxine and demonstrate that the disorder can present with seizures that first occur after nine months of life. Methods: CSF pyridoxal 5’-phosphate measurement and NGS analysis of the PNPO gene were performed using standard methodologies (Medical Neurogenetics Laboratories) Results: A male child with mild speech delay initially presented with febrile seizures at 10 months of age, followed by nonfebrile convulsive seizures and myoclonic atonic seizures. The patient was admitted for EEG monitoring at 15 months, during which time he developed non convulsive status epilepticus that resolved with phenobarbital. However, he remained severely encephalopathic. Pyridoxine and folinic acid were started empirically while awaiting test results. The encephalopathy resolved after 4 days. Analysis of CSF showed slightly decreased pyridoxal 5’-phosphate (14 nmol/l: ref. range 15-51); neurotransmitter metabolites, alpha aminoadipic semialdehyde and amino acids were unremarkable. NGS analysis revealed two heterozygous pathogenic variants in the PNPO gene (Asp33Val and Arg141Cys). Both variants have been previously associated with pyridoxine responsive PNPO deficiency and in vitro expression studies have demonstrated the activity of each to be approximately 50% of the wild type PNPO activity.

Meet Our Senior Genetic Counselor: Ymkje Cuperus, MS

Ymkje Cuperus, MS Senior Genetic Counselor We are excited to announce that Ymkje Cuperus, MS has joined MNG Laboratories as our Senior Genetic Counselor! Ymkje hails from the Netherlands and obtained her RN at UMC Sint Radboud Nijmegen, her BHA in Health Management at Hogeschool Arnhem/Nijmegen, and her MS in Health Science at Utrecht University. She obtained her genetic counseling training at UMC Utrecht and is a founding member of the Dutch Genetic Counselor’s Society. Ymkje was most recently with EGL Genetics where she spent the past 8 years in various genetic counseling roles and served departments such as the biochemical, molecular and cytogenetic divisions.  Before coming to the US in 2009, Ymkje was a clinical genetic counselor at the University Medical Center at Utrecht and prior to entering the genetic counselor field, she worked as a Sr. Nurse Manager at Groot Klimmendaal, Children Rehabilitation Center, where she supervised nursing care and rehabilitation for children and their families. Ymkje has developed a strong reputation and interest in the fields of molecular testing that are an excellent fit for MNG.  With over 20 years’ experience in the field of genetic counseling, we warmly welcome Ymkje to our team and look forward to her helping us make a difference for the patients we all serve in neurogenetics.

New Panels Now Available

MNG Laboratories is excited to announce the release of 3 new panels to our testing portfolio. Each panel includes single-exon resolution copy number analysis to ensure that we are providing you with the most clinically sensitive testing possible. We also understand that pathogenic variants in the mitochondrial DNA (mtDNA) can be associated with an array of clinical presentations and mtDNA analysis is often overlooked when ordering genetic testing. That is why we include mtDNA sequencing and deletion testing in our relevant next-generation sequencing panels at no additional charge. NGS428: Tuberous Sclerosis Panel (2 Genes) Tuberous sclerosis (TSC) is a rare genetic disease causing benign tumors to grow in the brain and other vital organs such as kidneys, eyes, lungs, ears, and heart. Symptoms may present as seizures, mental retardation, and skin abnormalities. Heterozygous pathogenic variants can be found in 75%-90% of individuals who meet the clinical diagnostic criteria for TSC. Of the patients that are diagnosed with TSC, 31% are found to have pathogenic variants in the TSC1 gene and 69% in the TSC2 gene. NGS429:  Familial Hemiplegic Migraine Panel (5 Genes + mtDNA)  Familial Hemiplegic Migraine (FHM) is a dominantly inherited form of migraine characterized by intense, throbbing pain in one area of the head, often preceded by aura and accompanied by nausea, vomiting, and extreme sensitivity to light and sound. Most individuals diagnosed with FHM have an affected parent. FHM is often earlier in onset than typical migraine. Approximately 40%-50% of patients have cerebellar signs ranging from nystagmus to progressive mild ataxia. NGS430: Stroke Panel (29 Genes + mtDNA) Stroke has a significant impact on patients, families and our healthcare system. It is the third largest cause of death, causing an estimated 10% of all deaths worldwide. Although many risk factors exist and contribute to the incidence of stroke, genetics can account for up to 50% of an individual’s risk of developing a stroke in the future. We strive to give you the best answers possible when you trust us with your patients’ samples. MNG constantly endeavors to provide you with actionable results. Utilizing our proprietary Genome MaNaGer™ pipeline and Neurogenetic Answers™ reporting process, we aim to reduce the distraction of unrelated variants of uncertain significance.

Build Your Own Custom Next-Generation Sequencing Panel

MNG Laboratories’ testing portfolio isn’t just limited to what we have in our test directory.

We understand that everyone has different testing needs, which is why we are now offering the flexibility of customizing targeted next-generation sequencing (NGS) panels. Additional testing such as repeat expansions and mtDNA sequencing and deletion analysis are also available as an add on in order to increase clinical sensitivity. For guaranteed results in less than 2 weeks, we also provide a STAT option. For more information, including gene selection, additional options, and pricing, please contactMNG Laboratories and we will help you customized your next NGS panel.