Path to Diagnosis
Our service is ideal for the identification of several different types of muscular disorders in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history.
Rapid testing from Dried Blood Spots available:
- Pompe Disease (enzyme activity).
- 5q-SMA (gene copy number).
Comprehensive gene panels for Limb-girdle muscular dystrophy (LGMD) and several other disease groups are available using the advantages of Next-Generation Sequencing and the advanced expertise of our genetic group.
In most cases, testing is perform using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique supplies enough sample for biochemical testing and in most cases genetic confirmation testing as well.
Available tests and panels
|Disorder / Disease||Test / Pre-Test||Genes|
|5q-Spinal Muscular Atrophy (SMA)||Molecular pre-test:|
SMN1, SMN2 copy number
|Duschene Muscular Dystrophy||Gene sequencing||DMD|
|Muscle glycogenoses||Gene sequencing panel||AGL, ALDOA, ENO3, GAA, GYG1, GYS1, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PYGL, PYGM, RBCK1, GBE1|
|Limb-girdle muscular dystrophy, Autosomal dominant||Gene sequencing panel||BAG3, DES, FLNC, LMNA, CAV3, COL6A3, CAPN3, COL6A1, COL6A2, HNRNPDL, MYOT, TNPO3, DNAJB6|
|Limb-girdle muscular dystrophy, Autosomal recessive||Gene sequencing panel||ANO5, BVES, DAG1, DES, DOK7, DYSF, FKRP, FKTN, GMPPB, GNE, ISPD, LAMA2, PLEC, POGLUT1, POMGNT1, POMGNT2, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TOR1AIP1, TRAPPC11, TTN, COL6A3, TRIM32, CAPN3, COL6A1, COL6A2|
|Muscular dystrophy, facio-scapulo-humeral||Gene sequencing||DUX4|
|Muscular dystrophy, congenital||Gene sequencing panel||ACTA1, B3GALNT2, B4GAT1, COL4A1, COL12A1, DAG1, DOLK, DPM1, DPM2, DPM3, DYSF, FHL1, FKRP, FKTN, GMPPB, INPP5K, ISPD, ITGA7, LAMA2, LARGE1, LMNA, MICU1, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SELENON, TCAP, TRAPPC11, SIL1, COL6A3, COL6A1, COL6A2, SYNE1, DMPK, DMD, CHKB|
Fully validated and accredited* according to the highest quality standards for Medical Laboratories (ISO 15189).
- Enzyme and biomarker assays by Clinical Mass Spectrometry.
- Genetics by Sanger and Next-Generation Sequencing platforms.
About Muscular Disorders
In general, Glycogen storage diseases (GSD) are metabolic disorders caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), most dominant in muscles and/or liver cells.
- Pompe disease (GSD II) has impaired acid α-glucosidase (GAA) activity. A zero activity may cause the infantile onset of disease (infantile Pompe, classical form) beginning within a few months of birth. Infants experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects.
About 5q-SMA and Duchenne Muscle Disorders?
- Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease with an incidence of 1:10,000. This rare condition is the most common lethal inherited disorder of infants. Faulty survival motor neuron (SMN) 1 genes lead to a lack of functional SMN proteins. These proteins are essential for normal motor neuron function. Read more about 5q-SMA and our diagnostic services at www.archimedlife.com/sma.
- Duchenne and Becker muscular dystrophy (DMD) is a rare genetic disease primarily affecting males, however, in rare cases, also affects females. DMD is characterized by progressive muscle weakness and wasting (atrophy), primarily affecting skeletal and heart (cardiac) muscles.
About the complexity of Limb-Girdle Muscular Dystrophies?
- Limb-girdle muscular dystrophy (LGMD) is a group of diseases that causes weakness and wasting of the proximal muscles specifically the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and features of LGMD vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.
How to Order Diagnostic Services for Muscle Disorders
Our tests and diagnostic panels for Muscular Disorders typically include an enzymatic pre-test targeting enzyme deficiency for Pompe Disease, and quantitative measurement of gene copy numbers for SMN1 and SMN2 for 5q-SMA. In cases of positive or conspicuous pre-test results, genetic molecular analysis can be included.
All of our services are available to any interested physician or healthcare professional worldwide.
As part of our diagnostic services, we supply complimentary ARCHIMEDlife sampling kits. You can order your sampling kits and diagnostic services though our easy and secure WEBPORTAL and receive your eletronic medical report in five simple steps.
Five Simple Steps
1Order Sampling Kit
2Collect the Sample
3Register the DBS Card
4Return the Sample
5Receive your Report