ASPER OPHTHALMICS SAMPLE SUBMISSION FORM
ORDERING PERSON AND REPORTING
INFORMATION
ADDITIONAL REPORTING INFORMATION
(if applicable)
Name
(first name,
last name)
Institution
Address
E-mail
Phone
Results delivery
Sample receipt
confirmation
by e-mail
by regular mail
Person
E-mail
BILLING INFORMATION
By submitting DNA samples to Asper Biotech the client agrees that invoices shall be paid within 10 calendar days as of the invoice date and in
case of delay in the payment, the open invoice amounts will accrue interest amounting to 0,1 % per calendar day.
Contact person
Institution
Address
E-mail
Phone
VAT account
number
In EU countries please add paying institution's VAT account number, otherwise 20% of VAT tax will be added to the invoice.
PO number
Invoice delivery
by e-mail
by regular mail
SAMPLE INFORMATION
Type
whole blood in EDTA
DNA
Other......................................
Date of collection
Fetal sample (for prenatal testing)
Maternal sample (for prenatal testing)
Date of collection
Type
DNA from CVS
DNA from
amniocentesis
DNA
whole blood in EDTA
Method and/or kit
of DNA extraction
PATIENT INFORMATION (needed for diagnostic package)
Name
Date of birth
Sex
Ethnic origin
Clinical diagnosis
ASPER BIOTECH Ltd • reg Nº 10504931 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • info@asperbio.com • www.asperbio.com
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TESTS REQUIRED
Age-related macular
degeneration
Genotyping service
Standard delivery*
Genotyping service
Express delivery**
Diagnostic
package***
Number of samples
Number of samples
Number of samples
NGS panel of 21 genes
Targeted mutation analysis
Sequencing of PAX6 gene
N/A
N/A
N/A
N/A
Aniridia
Single mutation
APEX panel of mutations
Autosomal Dominant
Optic Atrophy
NGS panel of 3 genes
N/A
Single mutation
APEX panel of mutations
Autosomal Dominant
Retinitis Pigmentosa
NGS panel of 26 genes
N/A
Single mutation
APEX panel of mutations
Autosomal Recessive
Retinitis Pigmentosa
NGS panel of 56 genes
N/A
Sequencing of RPE65
gene
N/A
Single mutation
APEX panel of mutations
Bardet Biedl
Syndrome, McKusickKaufman Syndrome,
Borjeson-ForssmanLehmann Syndrome,
Alström Syndrome,
Albright Hereditary
Osteodystrophy
NGS panel of 22 genes
N/A
Sequencing of BBS1 gene
N/A
Sequencing of BBS2 gene
N/A
Sequencing of BBS10
gene
N/A
Single mutation
Sequencing of CHM gene
N/A
Choroideremia
Single mutation
NGS panel of 32 genes
N/A
Cone-Rod Dystrophy
Single mutation
APEX panel of mutations
Congenital Stationary
Night Blindness
NGS panel of 13 genes
N/A
Single mutation
ASPER BIOTECH Ltd • reg Nº 10504931 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • info@asperbio.com • www.asperbio.com
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Genotyping service
Standard delivery*
Number of samples
TESTS REQUIRED
Genotyping service
Express delivery**
Number of samples
Diagnostic
package***
Number of samples
APEX panel of mutations
Corneal Dystrophy
NGS panel of 20 genes
N/A
Single mutation
APEX panel of mutations
Leber Congenital
Amaurosis
NGS panel of 20 genes
N/A
Sequencing of GUCY2D
gene
N/A
Sequencing of RPE65
gene
N/A
Single mutation
LHON
Oculocutaneous
Albinism, Ocular
Albinism,
HermanskyPudlak
Syndrome,
Chediak-Higashi
Syndrome
Stargardt Disease
Targeted mutation analysis
NGS panel of 17 genes
N/A
Single mutation
APEX panel of mutations
NGS panel of 4 genes
N/A
Single mutation
APEX panel of mutations
Usher Syndrome
NGS panel of 20 genes
N/A
Single mutation
APEX panel of mutations
Vitelliform Macular
Dystrophy
NGS panel of 2 genes
N/A
Single mutation
X-Linked Retinitis
Pigmentosa
APEX panel of mutations
(incl ORF15)
NGS panel of 3 genes (incl
ORF15)
Sequencing of ORF15
N/A
N/A
Single mutation
Sequencing of RS1 gene
N/A
X-Linked Retinoschisis
Single mutation
ASPER BIOTECH Ltd • reg Nº 10504931 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • info@asperbio.com • www.asperbio.com
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* - Genotyping service (standard delivery)
Genotyping
The results report by e-mail
APEX-based test results will be delivered by 3-6 weeks
NGS-based test results will be delivered by 8 weeks
For further information about turnaround times see the detailed description of each test on http://www.asperbio.com/
Genotyping results are for research use only. Genetic counseling is recommended to follow the genetic testing.
** - Genotyping service (express delivery)
Genotyping
The results report by e-mail
The results will be delivered by 7 working days
The express delivery is 45 EUR higher than the standard delivery.
*** - Diagnostic package
DNA extraction
Genotyping
Confirmation of disease associated variants by Sanger sequencing
Interpretation
The results report by registered mail
APEX-based test results will be delivered by 3-6 weeks
NGS-based test results will be delivered by 12 weeks
For diagnostic package please fill in patient’s clinical information at the end of the form.
Supportive services for genotyping
DNA extraction from blood, saliva or formalin-fixed paraffin-embedded tissue (35 €)
Confirmation of the APEX-based analysis findings by Sanger sequencing (29 € per mutation)
Confirmation of the NGS-based analysis findings by Sanger sequencing (29 or 140€ per mutation)
Hard copy of the genotyping results (23 €)
Sample return by courier (95 €)
Shipping address.......................................................................................................................................................................
Sample return by postal parcel (49 €)
Shipping address.......................................................................................................................................................................
SAMPLE INFORMATION FOR GENOTYPING SERVICE
Sample code
(samples should be pre-coded when
sent to Asper Biotech)
DNA concentration
(preferred 100-250 ng/µl)
Comments/Patient’s data
(fill the field if patient’s data is
needed for reporting and invoicing)
COMMENTS
PATIENT’S CLINICAL INFORMATION (needed for diagnostic package)
Reason for referral
confirmation of clinical diagnosis
presymptomatic testing
prenatal testing
carrier testing
risk estimation (AMD)
ASPER BIOTECH Ltd • reg Nº 10504931 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • info@asperbio.com • www.asperbio.com
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Age at the onset of symptoms…………..........................
Eye fundus changes
peripheral intraretinal pigment deposits
central intraretinal pigment deposits
corneal dystrophy - ………………… type
maculopathy
Visual loss
central vision loss
far peripheral vision loss
macular degeneration
chorioretinal dystrophy
chorioretinal degeneration
…………………………………….
colour vision deficiency ……………….........
blindness
tunnel vision
ERG (electroretinogram) results
reduced rod response amplitude
reduced cone response amplitude
delayed B-wave implicit time (IT)
……………………………………..
Refraction test result……………………………................
Involvement of other organs
kidney malformation
vestibular function disorder
hearing loss:
moderate
severe
profound
other……………………………............
polydactyly
Previous genetic testing
not done
results:
.......................................................................................................................................................................................
.......................................................................................................................................................................................
Family history
unknown
diagnosis…………………………………………………………………………………………………………........................
specify the relation to the proband……………………………………………………………………………….....................
Important: By sending samples and placing an order customer accepts the Terms and Conditions of Asper Biotech
(see website for details).
ASPER BIOTECH Ltd • reg Nº 10504931 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • info@asperbio.com • www.asperbio.com
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