Diagnostic Panel Updates: Neuromuscular Diseases (NMD) and Ion Channel Diseases (ION)

CeGaT has updated and expanded the diagnostic panel for neuromuscular diseases and the panel for ion channel diseases. Additionally, we have added the repeat diagnostics of the spinal and bulbar muscular atrophy (SBMA) to our portfolio.

As part of our regular updates, the diagnostics panel for neuromuscular diseases has been extended by 49 genes, to match current scientific data. In addition, the subpanel “periodic paralysis” (ION11), formerly part of the ion channel diseases panel, has been reassigned to the panel for neuromuscular diseases (now: NMD12).

In addition to panel diagnostics, we’ve established the repeat analysis of the AR (androgen receptor) gene in the field of neuromuscular diseases. Thus, if we suspect spinal and bulbar muscular atrophy (SBMA), we can analyse the disease associated CAG nucleotide triplet in this gene, and clarify the genetic basis of these X-chromosomal recessive muscle disorders.

In parallel, the diagnostic panel for ion channel diseases has been extended by a total of five genes.

Panel for Neuromuscular Diseases

Panel for Ion Channel Diseases

Comprehensive update on Panel for Epilepsy, Metabolic and Brain Development Disorders

Based on the latest scientific findings, the Diagnostic Panel for Epilepsy, Metabolic and Brain Development Disorders was updated.

The gene set for Familial and Idiopathic Epilepsy (EPI01) has been extended, most importantly be adding the genes NPRL2 and NPRL3. Growing knowledge on nocturnal frontal lobe epilepsies and focal epilepsies that are not correlated with time of day show an increasing genetic overlap, leading to the integration of the relevant genes into this gene set.

Several new gene sets are now available for metabolic diseases. Among them, for instance, a gene set for the most frequent cause of metabolic neonatal epileptic encephalopathy (pyridoxine and folic acid-dependent epilepsy), and a gene set for the relatively frequent Methylmalonic Acidemia (incidence approx. 1: 50,000). The gene sets covering disorders of the amino acid metabolism (organic acidemia) were extended.

New Gene Sets for Metabolic Diseases:

MET04 – Pyridoxine and Folic Acid dependent Epilepsy (6 genes)
MET08 – Maple Syrup Urine Disease and DLD Deficiency (4 genes)
MET12 – Hyperinsulinemic Hypoglycemia (7 genes)
MET13 – Methylmalonic Acidemia (6 genes)

Please visit our webpage Epilepsy, Metabolic and Brain Development Disorders for further information.

Massive Update and Re-organization of our Diagnostic Panel for Epilepsy, Metabolic and Brain Development Disorders

In accordance with the latest scientific findings, CeGaT has extensively updated its panel diagnostics for Epilepsy, Metabolic and Brain Development Disorders, now combining all three areas of disease on one gene panel. Our large-panel approach, unique to CeGaT, enables us to sequence all relevant 639 genes, both in parallel and in high-resolution. The new diagnostic panel is sub-divided into 28 gene-sets according to their clinical importance for the single areas of disease. With every update to the panel, currently in its 7th revision, new relevant genes are included in the analysis, reflecting the current state of scientific understanding (lately 265 genes have been included). Constantly, we adjust our technical parameters in order to increase the sequence coverage within clinically relevant areas, with the result that 99,6 % of all 639 genes are very well covered and the mean coverage of the panel is at >750x per base. This enables us to detect rare mosaic variants with high sensitivity.

In case you have any questions on how to proceed with your diagnostic analysis, or if you want to inquire regarding costs for a specific test, contact us anytime.

Please visit our webpage Epilepsy, Metabolic and Brain Development Disorders to learn more about the new Diagnostic Panel.

New Diagnostic Panel for Liver Diseases

CeGaT now offers a comprehensive Diagnostic Panel for hereditary childhood Liver Diseases, which has been designed in collaboration with Dr. med. Ekkehard Sturm, assistant medical director of gastroenterology at the University Children’s Hospital, Tübingen.

Childhood Liver Diseases are relatively rare disorders, and an early and precise diagnosis is of vital importance to enable an effective therapy. The use of molecular genetic analyses within these disorders offers an additional diagnostic opportunity when used in conjunction with an assessment of symptoms, laboratory, and image-guided diagnostics (Sturm und Hörtnagel, Monatszeitschrift Kinderheilkunde May2016, Band 164, S. 448-454).

The panel comprises eight gene sets with 118 genes in total, and offers the rapid and simultaneous analysis of all disease-associated genes known to be causative for hereditary childhood Liver Diseases.

For further information please visit the page for Liver Diseases.