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.

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.

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.

 

Bioinformatic analysis and interpretation of customer’s genetic data

Asper Biogene’s qualified geneticists are analyzing and interpreting your sequencing data, deletion/duplication analysis results etc.

Our thorough clinical interpretation includes phenotypic and clinical information evaluation; careful classification of variants based on population frequency, variant databases, in-silico prediction models and conservation scores; as well as recommendations for further testing strategies if necessary. Identified findings are reported according to the American College of Medical Genetics and Genomics (ACMG 2015) recommendations.

Ask customized solution from our experienced team to facilitate your clinical practice.

 

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.

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