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 Biogene 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
1
ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com
TESTS REQUIRED
Alzheimer Disease
Targeted mutation analysis
NGS panel of genes
Amyotrophic Lateral Sclerosis
Single mutation
NGS panel of genes
Charcot-Marie-Tooth Disease
Del/dup analysis
Single mutation
NGS panel of genes
Cornelia de Lange Syndrome
Single mutation
NGS panel of genes
Craniosynostosis
Single mutation
NGS panel of genes
Dystonia
Single mutation
NGS panel of genes
Epilepsy
Single mutation
Repeat expansion analysis
Fragile X Syndrome
NGS panel of genes
Frontotemporal Dementia
Single mutation
NGS panel of genes
Hereditary Spastic Paraplegia
m.9176T>C mutation analysis in MT-ATP6 gene
Single mutation
NGS panel of genes
Joubert Syndrome
Single mutation
Sequencing of ATP7A gene
Menkes Disease
Single mutation
NGS panel of genes
Microcephaly
Single mutation
2
ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com
TESTS REQUIRED
Mitochondrial genome sequencing
m.3243A>G mutation analysis in MT-TL1 gene
NGS panel of nuclear genes
Mitochondrial Diseases
Sequencing of ACADS gene
Sequencing of ACADVL gene
Single mutation
NGS panel of genes
Neurodegeneration with Brain Iron Accumulation
Single mutation
NGS panel of genes
Parkinson Disease
Single mutation
Sequencing of DHCR7 gene
Smith-Lemli-Opitz Syndrome
Single mutation
NGS panel of genes
Repeat expansion analysis
Spinocerebellar Ataxias
Single mutation
APEX panel of mutations
Sequencing of ATP7B gene
Wilson Disease
Single mutation
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………….............................
Growth retardation
Weight loss
Microcephaly
Developmental delay
3
ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com
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………………………………………………………………………………...................
Authorization to use remaining sample material and test results
Asper Biogene 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 Biogene
(see website for details)
4
ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia
phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com