Download sample submission form

ASPER OTOGENETICS 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
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 • [email protected] • www.asperbio.com
1
TESTS REQUIRED
NGS panel of genes
Alport Syndrome
Single mutation
Aminoglycoside-Induced Deafness
Targeted mutation analysis
NGS panel of genes
Branchiootorenal Syndrome
Single mutation
Sequencing of KCNE1, KCNQ1 genes
Jervell and Lange-Nielson Syndrome
Single mutation
Sequencing of GJB2 gene
Palmoplantar Keratoderma with Deafness
Single mutation
Sequencing of SLC26A4 gene
Pendred Syndrome
Single mutation
Targeted regions sequencing by NGS
NGS panel of genes
Sensorineural Hearing Loss
Sequencing of GJB2 gene
Single mutation
NGS panel of genes
Stickler Syndrome
Single mutation
NGS panel of genes
Treacher-Collins Syndrome
Single mutation
Targeted regions sequencing by NGS
Usher Syndrome
NGS panel of genes
Single mutation
NGS panel of genes
Waardenburg Syndrome
Single mutation
Zellweger Spectrum Disorders
NGS panel of genes
Single mutation
ASPER BIOTECH Ltd • reg Nº 10504931 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com
2
Service includes
DNA extraction
Genotyping
Confirmation of disease associated variants by Sanger sequencing
Interpretation
The results report by registered mail
Targeted mutation analyses results will be delivered by 2-4 weeks
NGS-based test results will be delivered by 6-9 weeks
PATIENT’S CLINICAL INFORMATION
Reason for referral
confirmation of clinical diagnosis
presymptomatic testing
carrier testing
prenatal testing
Age at the onset of symptoms…………..........................
Patient´s clinical features
no symptoms
severity of hearing loss
mild (26-40 dB)
moderate (41-70dB)
severe (71—90 dB)
profound (>90 dB)
onset of hearing loss:
prelingual
postlingual
physiologic test performed:
ABR (auditory brainstem response testing) ..........................................
EOAE (evoked otoacoustic emissions) .........................................................................................................................
external ear:
normal
abnormality ....................................................................................................................................................................
other organs:
normal
abnormality(ies) .............................................................................................................................................................
Previous genetic testing
not done
results:
.......................................................................................................................................................................................
.......................................................................................................................................................................................
Family history
unknown
diagnosis…………………………………………………………………………………………………………........................
specify the relation to the proband……………………………………………………………………………….....................
Authorization to use remaining sample material and test results
Asper Biotech may use de-identified (without personal identifying information) remaining sample material and test
results for quality improvements and/or scientific purposes.
I give my consent to use my de-identified sample material and test results as described above
I do not give my consent to use my de-identified sample material and test results as described above
Name of patient………………………………………………………………………………………………………………………
Patient’s signature……………………………………………………………………………………………………………………
Date……………………………………………………………………………………………………………………………………
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 • [email protected] • www.asperbio.com
3