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Repeat-Expansion Analysis

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MGZ uses the 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

MGZ offers repeat-expansion analysis 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 information about pricing and test ordering.

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

View all sample requirements

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

 

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.