The MGZ uses repeat-expansion analysis as a preferred tool over standard sequencing methods for detecting small-scale repetitive nucleotide gains or losses, such as those seen in repeat disorders.
Tests Available
Repeat-expansion analysis is available for the following phenotypes:
Phenotype | Gene | Product Name |
---|---|---|
Spinal and Bulbar Muscular Atrophy (SBMA)Kennedy’s Syndrome | AR | AR Repeat-Expansion Analysis |
Dentatorubral-Pallidoluysian Atrophy (DRPLA) | ATN1 | ATN1 Repeat-Expansion Analysis |
Spinocerebellar Ataxia Type 1 (SCA1) | ATXN1 | ATXN1 Repeat-Expansion Analysis |
Spinocerebellar Ataxia Type 2 (SCA2) | ATXN2 | ATXN2 Repeat-Expansion Analysis |
Spinocerebellar Ataxia Type 3 (SCA3) | ATXN3 | ATXN3 Repeat-Expansion Analysis |
Spinocerebellar Ataxia Type 6 (SCA6) | CACNA1A | CACNA1A Repeat-Expansion Analysis |
Spinocerebellar Ataxia Type 7 (SCA7) | ATXN7 | ATXN7 Repeat-Expansion Analysis |
Spinocerebellar Ataxia Type 8 (SCA8) | ATXN8OS | ATXN8OS Repeat-Expansion Analysis |
Spinocerebellar Ataxia Type 17 (SCA17) | TBP | TBP Repeat-Expansion Analysis |
ARX-associated Diseases | ARX | ARX Repeat-Expansion Analysis |
ARXFrontotemporal Dementia (FTD) Amyotrophic Lateral Sclerosis (ALS) |
C9ORF72 | C9ORF72 Repeat-Expansion Analysis |
Unverricht-Lundborg Disease (ULD) Myoclonic Progressive Epilepsy (EPM1) |
CSTB | CSTB Repeat-Expansion Analysis |
Myotonic Dystrophy Type 1 (DM1) | DMPK | DMPK Repeat-Expansion Analysis |
MyotonicFragile X Syndrome (FraX) Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) Premature Ovarian Insufficiency (POI) Premature Ovarian Failure (POF) |
FMR1 | FMR1 Repeat-Expansion Analysis |
Friedreich Ataxia (FRDA) | FXN | FXN Repeat-Expansion Analysis |
Huntington Disease (HD) | HTT | HTT Repeat-Expansion Analysis |
Oculopharyngeal Muscular Dystrophy (OPMD) | PABPN1 | PABPN1 Repeat-Expansion Analysis |
Congenital Central Hypoventilation Syndrome (CCHS) Hirschsprung Disease (HSCR) |
PHOX2B | PHOX2B Repeat-Expansion Analysis |
Gilbert-Meulengracht Disease | UGT1A1 | UGT1A1 Repeat-Expansion Analysis |
Myotonic Dystrophy Type 2 (DM2) Proximal Myotonic Myopathy (PROMM) |
ZNF9 | ZNF9 Repeat-Expansion Analysis |
Click here for price and test ordering information.
Methods
One or more of the following methods may be used in our laboratory for repeat-expansion analysis:
- Fragment length analysis
- Repeat-primed PCR
- Agarose gel electrophoresis
Sample Requirements
Accepted Sample Types
- 2-4 mL EDTA blood
- 3-10 µg DNA
Turnaround Time
- 3-6 weeks
Price Inquiries & Test Ordering
To request price information:
- Send your price request via MGZ's Inquiry/Order portal.
- Enter the Product Name e.g. AR Repeat-Expansion Analysis in the Individual Request field and click Add.
OR
- Request a cost statement by using our convenient contact form.
For detailed test ordering information:
- Please refer to the How to Order section of our website.
Questions? Contact us.
Sample Reports
To view a sample report, click here.