Category Archives: General

MNG Answers™

MNG is driven to help our healthcare partners, patients, and families find the answers they need when it comes to a diagnosis. MNG has solutions allowing economical reflex options to further investigate negative or inconclusive results.

MNG Variant Investigation Program (MNG VIP™)

No-cost familial testing for qualifying variants found in NGS and single gene testing performed at MNG.
  • VUS interpretation or identifying de novo variants in the proband
  • Applies to both single nucleotide or copy number variants
  • Results provided through an updated proband report

Negative Panel Reflex to MNG Exome™ Options

NGS panels are useful diagnostic tools, but they fail to identify the cause of disease in a significant percentage of cases. When further testing is re­quired, MNG makes it easy to add WES to the existing proband sample.
  • MNG Panel Negative reflex to MNG Exome™ Proband Only – $1,995
  • MNG Panel Negative reflex to MNG Exome™ Trio – $2,995

MNG Exome™ Reassessment

Complete data re-evaluation, not just classification updates to previously reported variants, including copy number changes and newly identified variants.
  • No-cost reassessment once per year
  • Eligible 6 months after report date
  • Applies to previous and future MNG Exome™ tests

Negative MNG Exome™ Reflex Options

Whole Exome Sequencing can provide a genetic diagnosis for about 25% of patients, leaving a large portion of those tested with inconclusive results. Whole Genome Sequencing allows assessment of noncoding genomic regions, while transcriptome analysis, applied along with MNG Exome™ or MNGenome® testing allows for functional assessment of variants affecting regulatory regions.
  • MNG Transcriptome™
  • Gene-Specific RNA seq – $845
  • Full Transcriptome – $1,485
  • MNGenome®
  • Proband – $4,400
  • Trio- $6,900

MNG Expands Global Reach with Several New Distributors

MNG Laboratories is pleased to announce the signing of several key international distributor agreements in Asia, Latin America and Eastern Europe. MNG now has active distributors representing our extensive menu of over 500 neurogenetic and biochemical tests in Mexico, Hong Kong, Turkey and Chile. Each distributor was chosen for their clinical expertise, excellent customer service, and technical leadership in their respective markets.
“This is just the start of MNG’s expansion strategy for global markets since we brought on dedicated business development talent to address this market opportunity late in 2017,” noted MNG’s President & CEO Terry Conrad. “We have additional pending agreements in different phases of development across the globe and are active in seeking additional partnerships in the Pharmaceutical, Biotech and University research arenas. MNG has a leadership position in neurogenetic and complex biochemical testing and our products and experience are trusted by research and development interests who are focused in neurology.”

To read the full press release, click here.

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.

MNG Laboratories is Now CAP and CLIA Accredited

On September 26, 2016, MNG Laboratories announced its accreditation from the College of American Pathologists (CAP). CAP aims to improve patient safety by advancing the quality of pathology and laboratory services through education, standard setting, and ensuring laboratories meet or exceed regulatory requirement. As of now, CAP accredits more than 7,600 laboratories globally. Read more about this exciting milestone for MNG Laboratories here.