List of diseases covered by Hereditary Spastic Paraplegia NGS panel

List of diseases covered by
Hereditary Spastic Paraplegia NGS panel

Gene Condition
ATL1 Spastic paraplegia 3A, autosomal dominant;
Neuropathy, hereditary sensory, type ID
AP4B1 Spastic paraplegia 47, autosomal recessive
AP4E1 Spastic paraplegia 51, autosomal recessive
AP4M1 Spastic paraplegia 50, autosomal recessive
AP4S1 Spastic paraplegia 52, autosomal recessive
AP5Z1 Spastic paraplegia 48, autosomal recessive
B4GALNT1 Spastic paraplegia 26, autosomal recessive
BSCL2 Encephalopathy, progressive, with or without lipodystrophy;
Lipodystrophy, congenital generalized, type 2;
Neuropathy, distal hereditary motor, type VA;
Silver spastic paraplegia syndrome
CYP7B1 Spastic paraplegia 5A, autosomal recessive;
CYP2U1 Spastic paraplegia 56, autosomal recessive
DDHD2 Spastic paraplegia 54, autosomal recessive
ERLIN2 Spastic paraplegia 18, autosomal recessive
FA2H Spastic paraplegia 35, autosomal recessive
GBA2 Spastic paraplegia 46, autosomal recessive
GJC2 Spastic paraplegia 44, autosomal recessive;
Leukodystrophy, hypomyelinating, 2; Lymphedema, hereditary, IC
HSPD1 Spastic paraplegia 13, autosomal dominant;
Leukodystrophy, hypomyelinating, 4
KIF1A Spastic paraplegia 30, autosomal recessive;
Mental retardation, autosomal dominant 9;
Neuropathy, hereditary sensory, type IIC
KIF5A Spastic paraplegia 10, autosomal dominant;
Amyotrophic lateral sclerosis, susceptibility to, 25;
Myoclonus, intractable, neonatal
L1CAM CRASH syndrome; Corpus callosum, partial agenesis of;
Hydrocephalus due to aqueductal stenosis
NIPA1 Spastic paraplegia 6, autosomal dominant
PLP1 Spastic paraplegia 2, X-linked; Pelizaeus-Merzbacher disease
PNPLA6 Spastic paraplegia 39, autosomal recessive;
Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome
REEP1 Spastic paraplegia 31, autosomal dominant;
Neuronopathy, distal hereditary motor, type VB
RTN2 Spastic paraplegia 12, autosomal dominant
SLC16A2 Allan-Herndon-Dudley syndrome
SPAST Spastic paraplegia 4, autosomal dominant
SPG7 Spastic paraplegia 7, autosomal recessive
SPG11 Spastic paraplegia 11, autosomal recessive;
Amyotrophic lateral sclerosis 5, juvenile;
Charcot-Marie-Tooth disease, axonal, type 2X
SPG20 Troyer syndrome
SPG21 Mast syndrome
TECPR2 Spastic paraplegia 49, autosomal recessive
VPS37A Spastic paraplegia 53, autosomal recessive
WASHC5 Spastic paraplegia 8, autosomal dominant;
Ritscher-Schinzel syndrome 1
ZFYVE26 Spastic paraplegia 15, autosomal recessive

Hereditary Spastic Paraplegia NGS panel

Hereditary Spastic Paraplegia NGS panel

Genes
(full
coding region):
ATL1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, B4GALNT1, BSCL2, CYP7B1, CYP2U1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, HSPD1, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, RTN2, SLC16A2, SPAST, SPG7, SPG11, SPG20, SPG21, TECPR2, VPS37A, WASHC5, ZFYVE26

List of diseases covered by the panel


Lab method: NGS panel

NGS panel with CNV


TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Targeted mutation analysis

Genes: MT-ATP6

No of
detectable
markers:
1 (m.9176T>C)

Lab method: Sanger sequencing

TAT: 1-2 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

120 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ATL1, NIPA1, SPAST, SPG7, REEP1

Lab method: MLPA

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Carrier status detection of known mutation
4. Prenatal diagnosis for known familial mutation
5. Genetic counseling

Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.

HSP is classified as uncomplicated, or pure, when only spinal involvement occurs, and is classified as complicated when accompanied by other system involvement or other neurologic findings such as ataxia, seizures, intellectual disability, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy.

HSP can be inherited in an autosomal dominant, autosomal recessive, x-linked recessive or maternally inherited (mitochondrial) manner.

The prevalence of all hereditary spastic paraplegias is estimated to be 2 to 6 in 100,000 people worldwide.

References:

Fink JK. Hereditary Spastic Paraplegia Overview. GeneReviews® 2000 Aug 15 (Updated 2014 Feb 6)
National Institute of Health 2008. Hereditary Spastic Paraplegia Information Page.
Sawhney IM, Bansal SK, Upadhyay PK, et al. Evoked potentials in hereditary spastic paraplegia. Ital J Neurol Sci. 1993 Sep. 14(6):425-8.