Congenital Myasthenic Syndrome NGS panel

Congenital Myasthenic Syndrome NGS panel

Genes: AGRN, ALG2, ALG14, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC5A7, SNAP25, SYT2

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

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

1 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

List of diseases covered by Congenital Myasthenic Syndrome NGS panel

List of diseases covered by
Congenital Myasthenic Syndrome NGS panel

Gene Condition
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
ALG2 Myasthenic syndrome, congenital, 14, with tubular aggregates;
Congenital disorder of glycosylation, type Ii
ALG14 Myasthenic syndrome, congenital, 15,
without tubular aggregates
CHAT Myasthenic syndrome, congenital, 6, presynaptic
CHRNA1 Multiple pterygium syndrome, lethal type;
Myasthenic syndrome, congenital, 1A, slow-channel;
Myasthenic syndrome, congenital, 1B, fast-channel
CHRNB1 Myasthenic syndrome, congenital, 2C,
associated with acetylcholine receptor deficiency;
Myasthenic syndrome, congenital, 2A, slow-channel
CHRND Myasthenic syndrome, congenital, 3A, slow-channel;
Myasthenic syndrome, congenital, 3C,
associated with acetylcholine receptor deficiency;
Multiple pterygium syndrome, lethal type;
Myasthenic syndrome, congenital, 3B, fast-channel
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel;
Myasthenic syndrome, congenital, 4B, fast-channel;
Myasthenic syndrome, congenital, 4C,
associated with acetylcholine receptor deficiency
COLQ Myasthenic syndrome, congenital, 5
DOK7 Myasthenic syndrome, congenital, 10; Fetal akinesia deformation sequence
DPAGT1 Myasthenic syndrome, congenital, 13, with tubular aggregates;
Congenital disorder of glycosylation, type Ij
GFPT1 Myasthenia, congenital, 12, with tubular aggregates
GMPPB Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 14;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities;
Pierson syndrome
LRP4 Myasthenic syndrome, congenital, 17;
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2
MUSK Myasthenic syndrome, congenital, 9,
associated with acetylcholine receptor deficiency;
Fetal akinesia deformation sequence
PLEC Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type;
Muscular dystrophy, limb-girdle, autosomal recessive 17
PREPL Myasthenic syndrome, congenital, 22
RAPSN Myasthenic syndrome, congenital, 11,
associated with acetylcholine receptor deficiency;
Fetal akinesia deformation sequence
SCN4A Myasthenic syndrome, congenital, 16; Hyperkalemic periodic paralysis, type 2;
Hypokalemic periodic paralysis, type 2;
Myotonia congenita, atypical, acetazolamide-responsive;
Paramyotonia congenita
SLC5A7 Myasthenic syndrome, congenital, 20, presynaptic;
Neuronopathy, distal hereditary motor, type VIIA
SNAP25 Myasthenic syndrome, congenital, 18
SYT2 Myasthenic syndrome, congenital, 7, presynaptic

List of diseases covered by Coagulation Disorders NGS panel

List of diseases covered by
Coagulation Disorders NGS panel

Gene Condition
F2 Hypoprothrombinemia; Thrombophilia due to thrombin defect
F5 Factor V deficiency;
Thrombophilia due to activated protein C resistance
F8 Hemophilia A
F9 Hemophilia B; Thrombophilia, X-linked, due to factor IX defect
F10 Factor X deficiency
F11 Factor XI deficiency
F12 Factor XII deficiency; Angioedema, hereditary, type III
F13A1 Factor XIIIA deficiency
FGA Afibrinogenemia, congenital;
Amyloidosis, familial visceral; Dysfibrinogenemia, congenital
FGB Afibrinogenemia, congenital; Dysfibrinogenemia, congenital
FGG Afibrinogenemia, congenital; Dysfibrinogenemia, congenital
GGCX Pseudoxanthoma elasticum-like disorder
with multiple coagulation factor deficiency;
Vitamin K-dependent clotting factors, combined deficiency of, 1
LMAN1 Combined factor V and VIII deficiency
MCFD2 Factor V and factor VIII, combined deficiency of
SERPINC1 Thrombophilia due to antithrombin III deficiency
VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2;
Warfarin resistance
VWF von Willebrand disease, type 1;
von Willebrand disease, types 2A, 2B, 2M, and 2N;
von Willibrand disease, type 3

Coagulation Disorders NGS panel

Coagulation Disorders NGS panel

Genes: F2, F5, F8, F9, F10, F11, F12, F13A1, FGA, FGB, FGG, GGCX, LMAN1, MCFD2, SERPINC1, VKORC1, VWF

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

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

1 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

Von Hippel-Lindau Disease

Von Hippel-Lindau Disease
VHL gene sequencing

Genes: VHL

Lab method: Sanger sequencing

Price / TAT: 267 EUR / 2-4 weeks

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

1,5 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

Frazer Syndrome NGS panel

Frazer Syndrome NGS panel

Genes: GRIP1, FREM2, FRAS1

Price / TAT: 1070 EUR / 6-9 weeks

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

1 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

List of diseases covered by Osteogenesis Imperfecta NGS panel

List of diseases covered by
Osteogenesis Imperfecta NGS panel

Gene Condition
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile
BMP1 Osteogenesis imperfecta, type XIII
COL1A1 Caffey disease; Ehlers-Danlos syndrome, arthrochalasia type, 1;
Osteogenesis imperfecta, type I; Osteogenesis imperfecta, type Ii;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
CREB3L1 Osteogenesis imperfecta, type XVI
CRTAP Osteogenesis imperfecta, type VII
FKBP10 Osteogenesis imperfecta, type XI; Bruck syndrome 1
IFITM5 Osteogenesis imperfecta, type V
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal;
Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome;
Polycystic liver disease 4 with or without kidney cysts;
van Buchem disease, type 2
MBTPS2 Osteogenesis imperfecta, type XIX;
Olmsted syndrome, X-linked;
IFAP syndrome with or without BRESHECK syndrome;
Keratosis follicularis spinulosa decalvans, X-linked
P3H1 Osteogenesis imperfecta, type VIII
PLOD2 Bruck syndrome 2
PLS3 Bone mineral density QTL18, osteoporosis
PPIB Osteogenesis imperfecta, type IX
SERPINF1 Osteogenesis imperfecta, type VI
SERPINH1 Osteogenesis imperfecta, type X
SP7 Osteogenesis imperfecta, type XII
SPARC Osteogenesis imperfecta, type XVII
TMEM38B Osteogenesis imperfecta, type XIV
WNT1 Osteogenesis imperfecta, type XV

Osteogenesis Imperfecta NGS panel

Osteogenesis Imperfecta NGS panel

Genes: ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1 (LEPRE1), PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1

List of diseases covered by the panel


Price / TAT: 1338 EUR / 6-9 weeks

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

1 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

Primary Ciliary Dyskinesia NGS panel

Primary Ciliary Dyskinesia NGS panel

Genes: ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

List of diseases covered by the panel


Price / TAT: 1334 EUR / 6-9 weeks

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

1 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

 

List of diseases covered by Primary Ciliary Dyskinesia NGS panel

List of diseases covered by
Primary Ciliary Dyskinesia NGS panel

Gene Condition
ARMC4 Ciliary dyskinesia, primary, 23
CCDC103 Ciliary dyskinesia, primary, 17
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary, 30
CCDC39 Ciliary dyskinesia, primary, 14
CCDC40 Ciliary dyskinesia, primary, 15
CCDC65 Ciliary dyskinesia, primary, 27
CCNO Ciliary dyskinesia, primary, 29
CENPF Stromme syndrome
CFAP298 Ciliary dyskinesia, primary, 26
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAAF3 Ciliary dyskinesia, primary, 2
DNAAF4 Ciliary dyskinesia, primary, 25
DNAAF5 Ciliary dyskinesia, primary, 18
DNAH1 Ciliary dyskinesia, primary, 37
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAH8 Ciliary dyskinesia
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus
DNAL1 Ciliary dyskinesia, primary, 16
DRC1 Ciliary dyskinesia, primary, 21
GAS8 Ciliary dyskinesia, primary, 33
LRRC6 Ciliary dyskinesia, primary, 19
MCIDAS Ciliary dyskinesia
NME8 Ciliary dyskinesia, primary, 6
PIH1D3 Ciliary dyskinesia, primary, 36, X-linked
RPGR Ciliary dyskinesia; Retinitis pigmentosa 3;
Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic;
Retinitis pigmentosa, X-linked, and sinorespiratory infections,
with or without deafness
RSPH1 Ciliary dyskinesia, primary, 24
RSPH3 Ciliary dyskinesia, primary, 32
RSPH4A Ciliary dyskinesia, primary, 11
RSPH9 Ciliary dyskinesia, primary, 12
SPAG1 Ciliary dyskinesia, primary, 28
ZMYND10 Ciliary dyskinesia, primary, 22

Updates in Asper Ophthalmics

Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/

List of diseases covered by Senior-Loken Syndrome NGS panel

List of diseases covered by
Senior-Loken Syndrome NGS panel

Gene Condition
CEP290 Senior-Loken syndrome 6; Joubert syndrome 5;
Leber congenital amaurosis 10;
Meckel syndrome 4; Bardet-Biedl syndrome 14
INVS Nephronophthisis 2, infantile
IQCB1 Senior-Loken syndrome 5
NPHP1 Senior-Loken syndrome-1; Joubert syndrome 4;
Nephronophthisis 1, juvenile
NPHP3 Nephronophthisis 3; Meckel syndrome 7;
Renal-hepatic-pancreatic dysplasia 1
NPHP4 Senior-Loken syndrome 4
SDCCAG8 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16
TRAF3IP1 Senior-Loken syndrome 9
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13

Senior-Loken Syndrome

Senior-Loken Syndrome NGS panel

Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

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

1 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

Ehlers-Danlos Syndrome NGS panel

Ehlers-Danlos Syndrome NGS panel

Genes
(full
coding region):
ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, SLC39A13, RIN2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

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

1 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

 

Leukodystrophy and Leukoencephalopathy NGS panel

Leukodystrophy and Leukoencephalopathy
NGS panel

Genes: ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, CSF1R, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, HEPACAM, HSPD1, HTRA1, L2HGDH, LMNB1, MLC1, NOTCH3, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SOX10, SUMF1, TREX1, TUBB4A

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

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

1 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

Deletion/duplication analysis

Genes: ABCD1, ASPA, L2HGDH, LMNB1, MLC1, NOTCH3, PLP1

Lab method: MLPA

Price / TAT: 1070 EUR / 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

List of diseases covered by AMD NGS panel

List of diseases covered by AMD NGS panel

Gene Condition
ABCA4 Stargardt disease 1; Cone-rod dystrophy 3;
Macular degeneration, age-related, 2; Retinitis pigmentosa 19;
Retinal dystrophy, early-onset severe
ARMS2 Macular degeneration, age-related, 8
C2 Macular degeneration, age-related, 14, reduced risk of
C3 Macular degeneration, age-related, 9
C9 Macular degeneration, age-related, 15, susceptibility to
CFB Macular degeneration, age-related, 14, reduced risk of;
Complement factor B deficiency
CFH Macular degeneration, age-related, 4;
Complement factor H deficiency
CFI Macular degeneration, age-related, 13, susceptibility to;
Complement factor I deficiency
CST3 Macular degeneration, age-related, 11
CX3CR1 Macular degeneration, age-related, 12
ERCC6 Macular degeneration, age-related, susceptibility to, 5
FBLN5 Macular degeneration, age-related, 3
HMCN1 Macular degeneration, age-related, 1
HTRA1 Macular degeneration, age-related, 7
RAX2 Cone-rod dystrophy 11; Macular degeneration, age-related, 6

Thrombocytopenia NGS panel

Thrombocytopenia NGS panel

Genes: ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9, RUNX1, WAS

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

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

1 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

Alpha Thalassemia

Alpha Thalassemia
Deletion Analysis

Genes: HBA1, HBA2

No of
detectable
markers:
7 deletions

Lab method: PCR

Price / TAT: 91 EUR / 2-4 weeks

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

500 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: HBA1, HBA2

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

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

1 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

Beta Thalassemia

Beta Thalassemia
Sequencing of the HBB gene

Genes: HBB

Lab method: Sanger sequencing

Price / TAT: 257 EUR / 2-4 weeks

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

300 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 of the HBB gene

Genes: HBB

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

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

1 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

Fanconi Anemia

Fanconi Anemia
NGS panel

Genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

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

1 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

Deletion/duplication analysis

Genes: FANCA, FANCB, FANCD2, PALB2

Lab method: MLPA

Price / TAT: 1070 EUR / 4-6 weeks

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

2,5 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

Age-Related Macular Degeneration – AMD

Age-Related Macular Degeneration
NGS panel

Genes
(full
coding region):
ABCA4, ARMS2, C2, C3, C9, CFB, CFH, CFI, CST3, CX3CR1, ERCC6, FBLN5, HMCN1, HTRA1, RAX2

List of diseases covered by the panel


Price / TAT: 995 EUR / 6-9 weeks

Clinical interpretation is not available.


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

1 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: ARMS2, CFH

Lab method: Sanger sequencing

No of
detectable
markers:
3

Price / TAT: 87 EUR / 4-6 weeks

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

500 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.

2 ml of saliva

Buccal sell sample


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

Indications for genetic testing:
1. Risk determination of at-risk individuals for early diagnosis and prediction of disease progression
2. Risk assessment of individuals with family history of AMD
3. Genetic counseling

Age-related macular degeneration (AMD) is characterized by pathological changes of the retinal pigment epithelium (RPE), progressive degeneration of photoreceptors, thickened Bruch’s membrane and choroidal neovascularization. These alterations lead to the loss of sharp, central vision. It is an age-related process and usually develops after a person reaches 50 years.
In Western Europe and USA 30% of people older than 75 years suffer from different types of AMD. 85-90% cases of AMD are dry AMD, which have no treatment. 10-15% cases of AMD are wet AMD, which have number of treatments available (injection into the eye to stop further development) and early diagnosis can save vision.
AMD increased risk assessment enables prevention and early diagnosis of the disease. The early diagnosis is vital to delay progression of disease and vision loss.

Achromatopsia NGS panel

Achromatopsia NGS panel

Genes: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

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

1 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

Genetic testing in Hungary

The goal is to offer the country’s eye doctors and other specialists the wide portfolio of Asper’s test. Currently working in close collaboration with Optovision Ltd. Asper Biotech has the goal of reaching the Hungarian eye doctors offering them diagnostics solutions that are enhanced by our partner’s advancing knowledge in eye disease genetics. Co-operation with internet medicine network and wide partner network enables to reach the goals quickly and efficiently bringing on stronger brand presence for Asper and a comprehensive medical product market for Optovision.

Optovision is widening its network of clinics and doctors over all medical areas that Asper’s tests cover.

Supportive services

Flexible approach to gene panels

In diagnosing complex disorders, it may be necessary to use wider range of genes than initially determined, or combine different gene panels. We can easily redesign our existing gene panels to match your clinical practice or research project. Additional fee will not be added. Contact info[at]asperbio.com to ask for personal solutions.

Pre- and post-test consultation by email/phone/Skype

Medical geneticist is available for pre- and post-test consultation (60 €) to referring physicians and health-care professionals. Contact info[at]asperbio.com to register for consultation.

Shipment of samples

Shipment of the samples

For speedy and secure delivery, international courier services such as DHL, UPS and FedEx are recommended; alternatively, you can send samples by air mail as a small parcel.

  • Since high quality DNA samples are stable, there is no need for shipment in dry or wet ice.
  • To avoid sample loss and contamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid or wrap the caps of each microtube with parafilm.
  • In order to avoid damage to the tubes during shipment, a tube storage box made of plastic or cardboard in a padded envelope is recommended. Please avoid using round containers, such as 50 ml Corning tubes, for tube protection.
  • Send blood samples by courier service. Blood samples can be preserved at 2-8°C before shipping. Blood samples are recommended not to freeze and not to store longer than one week.
  • Please make sure that the declared value of the package in the shipment does not exceed 10 EUR.
  • Send samples to the following address:
    Asper Biogene
    Vaksali 17a
    Tartu 50410
    Estonia
    Ph: +372 7307 295
  • You will be notified by email, once the samples arrive at Asper Biogene.

Payment

Invoicing

Clients receive a service invoice when samples arrive at Asper Biogene, unless it is agreed otherwise.

The invoice is sent by email. Should your accounting department need a signed invoice, please notify Asper Biogene, and the signed invoice will be sent via airmail or fax as per your instructions.

Please indicate the invoice number in payment details.

Payment options:

A bank transfer is the preferred way to process invoices. PayPal payments also available, please contact info[at]asperbio.com

Bank details:

Asper Biogene
Vaksali 17a, 50410 Tartu, Estonia
Bank: LHV Pank, Tartu mnt 2, Tallinn, Eesti
SWIFT: LHVBEE22
IBAN: EE387700771002617995