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Category Archives: Test Updates

Challenging Cases and Advanced Sequencing Technologies: Improving the Clinical Sensitivity of Genetic Testing

Join MNG Laboratories’ Chief Medical Officer, Dr. Peter L. Nagy, and the Clinical Reporting Team as they present multiple case studies illustrating the value of using complementary testing and data analysis methods to increase the clinical sensitivity of MNG’s genetic testing portfolio. The team will highlight cases solved through the application of high resolution CNV assessment, mitochondrial DNA analysis, transcriptome/RNA sequencing, and repeat expansion screening from genome sequencing datasets. After the presentation, there will be a 15 minute Q&A with our speakers.

To listen to the webinar recording, please click here.

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
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Combining Genome Sequencing with Transcriptome Analysis can Improve Diagnostic Outcomes

Join us for a webinar presented by our Chief Medical Officer, Dr. Peter L. Nagy, to discuss the benefits of performing and analyzing genome and RNA sequencing together. The increased number of single nucleotide and copy number variants associated with genome sequencing are best interpreted with the help of joint parental testing and the assessment of the functional significance of intronic and regulatory changes with a functional test like the transcriptome.

For the webinar recording, please click here.

 

MNG announces the MNG Xpress Exome™

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.



The Value of Reanalysis

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.

MNG Announces New Test Updates

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.

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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.

MNG Laboratories™ Adds Complementary mtDNA Genome Analysis to ID/Autism NGS Panels

Recent studies[1][2] 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

Significant Improvements Made to Our Dystonia Panel Portfolio

We are pleased to announce that we have made substantial improvements in our ability to search for and identify the known pathogenic variants likely to cause dystonia. Our Comprehensive Dystonia Panel now includes 192 genes and 5,048 pathogenic variants associated with conditions linked to dystonia. This panel includes mtDNA sequencing and deletion analysis with the option of adding HTT repeat expansion analysis, ensuring you are provided with the most comprehensive testing possible. Understanding a comprehensive panel may not always be necessary, we updated of our existing subpanels to cover more medically relevant genes and increase their clinical sensitivity. In addition, we have introduced a new Dopa-Responsive Dystonia panel to our portfolio. All of our next-generation sequencing panels include single-exon resolution copy number analysis to provide you the most clinically sensitive testing possible.

The Most Comprehensive Exome Available

Now Covering 100% of Expert Approved Pathogenic Variants
We are proud to announce that our MNG Exome™ now covers all pathogenic variants that are practice guideline and expert panel reviewed in ClinVar. These include variants located in intronic regions that are not covered by standard exome sequencing. In addition to sequencing, we include copy number analysis, mitochondrial genome sequencing + deletion, and heteroplasmy assessment.
New to MNG Exome: Uniparental Disomy
To further enhance the comprehensiveness of the MNG Exome™, we have added the first commercially available uniparental disomy detection to our whole exome testing. Uniparental disomy can disrupt parent-specific genomic imprinting, resulting in disorders such as Angelman syndrome and Prader-Willi syndrome. The addition of uniparental disomy detection in the MNG Exome™ is essential for improving our ability to finding the answers you need for your patient in one single test.
How the MNG Exome Compares

Improved and Expanded Spastic Paraplegia Panel Now Available

MNG Laboratories understands the importance of providing your patients with the most comprehensive testing possible, particularly with disorders such as spastic paraplegia that are both clinically and genetically heterogeneous.  When it comes to our Spastic Paraplegia Panel, we guarantee coverage of all pathogenic variants in the most relevant genes while providing single-exon resolution copy number analysis. We routinely review over 2,500 disease causing variants in genes associated with conditions that are linked to spastic paraplegia. That’s over 3x more than our closest competitor!  To improve diagnostic sensitivity, single exon resolution copy number analysis and mitochondrial sequencing with deletion analysis is included. 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.

Redefining Your Comprehensive Intellectual Disability Panel

MNG Laboratories understands the importance of having a robust Comprehensive Intellectual Disability Panel to provide the answers your patients need. Our complete offering guarantees coverage of all pathogenic variants in the most relevant genes while providing single-exon resolution copy number analysis. We routinely review over 15,600 disease causing variants in genes associated with conditions that are linked to intellectual disability. That’s over 18% more than our closest competitor. Knowing how important time is to you and your patients, we deliver results in 2-4 weeks and offer a STAT option for results guaranteed within 2 weeks. 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.