To listen to the webinar recording, please click here.
Challenging Cases and Advanced Sequencing Technologies: Improving the Clinical Sensitivity of Genetic Testing
December 6, 2018
Category Archives: Test Updates
December 6, 2018
To listen to the webinar recording, please click here.
November 12, 2018
October 24, 2018
For the webinar recording, please click here.
September 24, 2018
MNG is pleased to announce the availability of the MNG Xpress Exome™ with results in 10-14 days, and exciting updates to the MNG Exome™
Exome sequencing is a powerful diagnostic tool that has proven clinical utility to identify mutations in Mendelian disorders that are both genetically and phenotypically heterogeneous. For clinical situations that demand the fastest turnaround time, MNG is pleased to offer the MNG Xpress Exome™ with results in 10-14 days. Most labs offer a premium cost for a STAT result, but MNG offers this service at an economical cost of $4,895 for Trio testing and $3,295 for Proband only testing.
As whole exome sequencing (WES) becomes more routinely used for the diagnosis of genetic disorders, MNG recognizes the importance of routine reanalysis of previously generated WES data. With our knowledge of genetics and bioinformatics growing rapidly, MNG plans to stay on top of these improvements and make keeping up with the latest information as easy as possible to assist with patient care.
Effective immediately, any MNG Exome™ (including Xpress) ordered in the past or future will be eligible for full reanalysis 6 months after the issuance of the initial report, and once per 12 month period thereafter. All data will be re-evaluated, not just classification updates to previously reported variants, including copy number changes and newly identified variants. Please feel free to call or email us for any additional details.
The MNG Exome™ is already trusted as the most comprehensive and fastest exome available with a TAT of 2-4 weeks. We are pleased to announce a more economical price for an MNG Exome™ Trio at $4,395 and Proband only at $2,795. The MNG Exome™ includes 100% coverage of expert approved variants, copy number analysis, mtDNA sequencing + deletion and heteroplasmy assessment, and detection of uniparental disomy.
Read more about our MNG Exome™ on our website.
August 24, 2018
The most common mutation, seen in >95% of Friedreich ataxia (FRDA) patients, is a GAA triplet-repeat expansion in intron 1 of the FXN gene. Individuals with less than 500 repeats often have a later age of onset compared to patients with greater than 600 repeats. The presence of leg muscle weakness/wasting, duration until wheelchair use, and prevalence of cardiomyopathy, pes cavus, and scoliosis also show statistically significant inverse correlations with the size of the expanded GAA repeat (PMID: 20301458). In some cases, the size of the repeat can even determine a patient’s eligibility for clinical trials. For these reasons, MNG Laboratories is proud to announce that we are now able to report the size of expanded alleles greater than 100 repeats detected by our FRDA repeat expansion testing.
If your patient has previously had abnormal FRDA testing performed by our lab, please contact us for free sizing.————————————————————————————————————————————————————-
MNG Laboratories is now offering deletion/duplication testing for congenital adrenal hyperplasia, Gaucher disease, alpha-thalassemia, and spinal muscular atrophy. Each of these disorders is caused by variations in genes that have highly homologous pseudogenes or other complex molecular characteristics that make deletion/duplication analysis by standard methods difficult. For that reason, we have validated Multiplex Ligation-dependent Probe Amplification (MLPA) testing for analysis of the genes associated with these disorders. Analysis of these genes will be included with all MNG Carrier Exomes™ and MNG Healthy Exomes™ at no additional cost to our clients. They are also available individually.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that results from a deficiency in one of the enzymes involved in cortisol biosynthesis. CAH affects approximately 1 in 5,000 births, with an estimated carrier frequency of 1 in 35. In roughly 95% of cases, CAH is caused by deficiency of the steroid 21-hydroxylating enzyme encoded by the CYP21A2 gene (PMID: 20301350). Our CAH MLPA analysis will detect most large rearrangements/deletions/duplications within the CYP21A2 gene, as well as the presence of some of the most common pathogenic variants that are reported in the gene.
Gaucher disease (GD) is the most common lysosomal storage disorder, with a frequency as high as 1 in 850 in Ashkenazi Jewish populations (PMID: 24639522). GD is an autosomal recessive disorder characterized by a deficient activity/accumulation of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside), primarily within cells of mononuclear phagocyte origin, which are the characteristic ‘Gaucher cells’ identified in most tissues. Defects in the GBA gene on chromosome 1q22 are the main cause of GD (PMID: 20301446). Our GD MLPA analysis will detect most large deletions/duplications within the GBA gene.
Alpha-thalassemia is the most common inherited hemoglobin disorder in the world. It is characterized by a reduced production of the alpha-globin chain, resulting in a decrease in the total amount of hemoglobin. The alpha-globin chains are encoded by the hemoglobin alpha 1 (HBA1) and alpha 2 (HBA2) genes, located in the alpha-globin gene cluster on chromosome 16p13.3. The associated patient phenotypes are dependent on which of the genes harbor pathogenic variants (HBA1 or HBA2), the type of variant, and the number of affected alpha-globin genes. Approximately 90% of alpha- thalassemia cases are attributed to deletions; more than 20 different deletions ranging from ~6 kb to >300 kb have been reported (20301608). Our alpha-thalassemia MLPA analysis will detect most large deletions/duplications within the HBA1 and HBA2 genes, as well as the Hb Constant Spring mutation (HbCS).
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. A homozygous deletion of exon 7 of the SMN1 gene is present in approximately 95% of SMA patients. Our SMA MLPA analysis will detect copy number of exons 7 and 8 of the SMN1 gene and of the SMN2 gene.
Recent studies have suggested a connection between mitochondrial DNA (mtDNA) and autism. At MNG Laboratories™, we strive to offer a comprehensive portfolio of tests to provide your patients with the answers they need. Our philosophy of offering mtDNA sequencing and deletion analysis to many of our sequencing panels has resulted in a 15.1% increase in the diagnostic sensitivity.
As part of our continued promise to offer the most technically advanced and clinically informative testing in the market, we are proud to announce the addition of mtDNA sequencing and deletion analysis to our Comprehensive Intellectual Disability/Autism panel at no additional cost.
The MNG Neurobehavioral disorder portfolio encompasses a variety of rare genetic neurological disorders, including those related to cognition, neurodevelopment, and neurodegeneration, and this exciting addition to our robust test offerings further supports the quality delivered via our Neurogenetic Answers™ reporting platform.
1) Varga, N., Pentelényi, K., Balicza, P., Gézsi, A., Reményi, V., Hársfalvi, V., . . . Molnár, M. (2018). Mitochondrial dysfunction and autism: Comprehensive genetic analyses of children with autism and mtDNA deletion. Behavioral and Brain Functions : BBF, 14(1), 4.
2) Chalkia D, Singh LN, Leipzig J, et al. Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders. JAMA Psychiatry. 2017;74(11):1161–1168. doi:10.1001/jamapsychiatry.2017.2604
January 15, 2018
January 11, 2018