Hereditary Spastic Paraplegia Panel

 

Disorders Spastic paraplegia
Aicardi-Goutieres syndrome
Silver spastic paraplegia syndrome
Troyer syndrome
Mast syndrome
Gene Names
ABCD1 BSCL2 FARS2 MARS RTN2 TUBB3
ACOX1 C12orf65 GBA2 MECP2 SACS TUBB4A
ADAR C19orf12 GJC2 NIPA1 SAMHD1 UCHL1
ALDH18A1 CAPN1 HACE1 NT5C2 SLC16A2 VAMP1
ALS2 CPT1C HSPD1 OPA3 SLC2A1 VPS37A
AP4B1 CYP2U1 IFIH1 PGAP1 SLC33A1 WASHC5
AP4E1 CYP7B1 KDM5C PLA2G6 SPAST WDR45
AP4M1 DDHD1 KIDINS220 PLP1 SPG11 ZFYVE26
AP4S1 DDHD2 KIF1A PNPLA6 SPG20 ZFYVE27
AP5Z1 ENTPD1 KIF1C PQBP1 SPG21  
ATL1 ERLIN1 KIF5A RAB3GAP2 SPG7  
ATP13A2 ERLIN2 KLC2 REEP1 TECPR2  
B4GALNT1 EXOSC3 L1CAM REEP2 TFG  
BICD2 FA2H MAG RNASEH2B TREX1  
Clinical info

This panel consists of 79 genes associated with hereditary spastic paraplegia, or HSP, which refers to a group of disorders associated with increased muscle tone, stiffness, and weakness in the lower extremities. In uncomplicated, also known as pure, spastic paraplegia, loss of sensation and overactive bladder may occur. Additional features including intellectual disability, gait abnormalities, seizures, dementia, and peripheral neuropathy, have been reported in cases that are considered to be complicated. The upper extremities are usually spared of symptoms. The prevalence of HSP is approximately 3 in 100,000, and an estimated 10% of patients have complicated HSP with additional clinical features.

These conditions can be inherited in autosomal dominant, autosomal recessive, and X-linked dominant and recessive patterns, and each type exhibits variable clinical presentation, age of onset, degree of severity, and disease progression. Lifespan is typically unaffected.

List of Genes and Conditions

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Detection

The current design of the hereditary spastic paraplegia panel covers the coding region for all 79 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Associated Tests

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 8-10 weeks
Prenatal testing

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81479
Cost $3,500

Insurance billing is available for this test. The Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Announcements

Holiday Schedule

The Greenwood Genetic Center Diagnostic Laboratories will be closed on the following dates:

Monday, December 25, 2017

Monday, January 1, 2018

Deliveries will be accepted eachSaturday during these weekends.

Updated Prices & CPT Codes
(effective December 4, 2017)


New Testing

Hereditary Spastic Paraplegia Panel

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