ASPER NEUROGENETICS 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
1
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
TESTS REQUIRED
Alzheimer Disease
Targeted mutation analysis
Genotyping service
Standard delivery*
Genotyping service
Express delivery**
Diagnostic
package***
Number of samples
Number of samples
Number of samples
N/A
NGS panel of 31 genes
Charcot-Marie-Tooth
Disease
Del/dup analysis
N/A
N/A
N/A
N/A
Single mutation
Cornelia de Lange
Syndrome
NGS panel of 5 genes
N/A
Single mutation
NGS panel of 7 genes
N/A
Craniosynostosis
Single mutation
NGS panel of 34 genes
Hereditary Spastic
Paraplegia
m.9176T>C mutation
analysis in MT-ATP6 gene
N/A
N/A
N/A
Single mutation
Menkes Disease
Sequencing of ATP7A
gene
N/A
Single mutation
NGS panel of 24 genes
N/A
Microcephaly
Single mutation
Mitochondrial
Diseases
Mitochondrial genome
sequencing
m.3243A>G mutation
analysis in MT-TL1 gene
NGS panel of 132 nuclear
genes
Sequencing of ACADS
gene
Sequencing of ACADVL
gene
N/A
N/A
N/A
N/A
N/A
N/A
Single mutation
Smith-Lemli-Opitz
Syndrome
Spinal Muscular
Atrophy
Spinocerebellar
Ataxias
APEX panel of mutations
Single mutation
Targeted mutation analysis
NGS panel of 67 genes
N/A
N/A
N/A
Single mutation
APEX panel of mutations
Wilson Disease
Sequencing of ATP7B
gene
N/A
Single mutation
2
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
* - 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
carrier testing
prenatal testing
Age at the onset of symptoms………….............................
3
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
Growth retardation
Weight loss
Microcephaly
Developmental delay
Scoliosis
Limb abnormalities……………………….......................................................................................................................
Muscle atrophy…………………………………………………………………………………………………………………..
Central nervous system involvement
Hepatomegaly
Kayser-Fleischer ring in eye
Hypoglycemia
Neuropsychiatric findings ………………………………………………………………………………………………………
Genitourinary findings…………………………………………………………………………………………………………..
Gastrointestinal findings ……………………………………………………………………………………………………….
Neurological findings....................................................................................................................................................
Dermatologic findings………………………………………………………………………………………………………......
Other findings………………………………………………………………………………………………………..................
Results of the laboratory analysis
Serum ceruloplasmine …………….g/L
Copper
serum.............. µmol/L
urine ..................µmol/24 h
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)
4
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