SAMPLE SUBMISSION FORM FOR EXOME SEQUENCING
PATIENT INFORMATION
Patient
(first name, last name)
_____ / _____ / _____
Date of birth
DD
Ethnicity
Clinical diagnosis
SAMPLE INFORMATION
Sample code
Type of sample
MM
YY
DNA
Blood
_____ / _____ / _____
Date of sample collection
DD
MM
YY
BIOLOGICAL PARENTS’ INFORMATION (Biological parents’ samples are required for exome sequencing of parentschild trios)
Mother
(first name, last name)
_____ / _____ / _____
Date of birth
DD
MM
YY
Findings
Sample code
Type of sample
DNA
Blood
_____ / _____ / _____
Date of sample collection
DD
MM
YY
Father
(first name, last name)
_____ / _____ / _____
Date of birth
DD
MM
YY
Findings
Sample code
Type of sample
DNA
Blood
_____ / _____ / _____
Date of sample collection
DD
MM
YY
TESTING INFORMATION
Genotyping service — all detected variants are reported as an annotated VCF file in Excel format (a list of variants
and quality scores)
Expanded genotyping service — DNA extraction, all detected variants are reported as an annotated VCF file in
Excel format (a list of variants and quality scores), bioinformatic analysis (e.g., SIFT, PolyPhen2, LRT, MutationTaster,
MutationAssessor, FATHMM, GERP++, PhyloP, SiPhy, variant frequencies) of detected variants is performed to
identify the most likely disease associated variants. In addition to patient’s phenotype/disease associated variants,
incidental findings are reported according to ACMG recommendations for reporting of incidental findings in clinical
exome and genome sequencing.
PATIENT CLINICAL INFORMATION (needed for expanded genotyping service)
Indications for testing
Provide description
Congenital anomalies
Developmental disorder
Growth
Craniofacial abnormalities
Skeletal abnormalities
Muscular abnormalities
Brain abnormalities
Hematologic disorder
Psychiatric disorder
Metabolic disorder
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
Indications for testing
Provide description
Genitourinary abnormalities
Dermatologic disorder
Optical disorder
Cardiac disorder
Immunologic disorder
Gastrointestinal disorder
Otologic disorder
Endocrine disorder
Cancer formation
Other findings
REQUESTING PHYSICIAN INFORMATION
Requesting Physician
(first name, last name)
Hospital/Lab/Institution
Person
Samples receipt/order
confirmation
E-mail
Address
Results to be sent to
E-mail
Phone
Results delivery
by e-mail
by regular mail
Person
Duplicate results
to be sent to
Address
(if applicable)
E-mail
PAYMENT OPTIONS
By submitting DNA samples to Asper Biotech, the client agrees that invoices will be paid within 10 calendar days as of
the invoice date and, in case of a delay in the payment, open invoice amounts accrue interest amounting to 0.1% per
calendar day.
Institutional billing
Contact
information
person
Institution
Address
In EU countries, add the
E-mail
VAT account number of
Phone
the paying institution,
VAT account
otherwise 20% of VAT
number
tax will be added to the
PO number
invoice.
Invoice
by e-mail
by regular mail
delivery
Patient’s data
is needed for
yes
no
invoicing
Important: By sending samples and placing an order, the client accepts the Terms and Conditions of exome
sequencing (see next page).
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
INFORMATION AND CONSENT FOR EXOME SEQUENCING
Test description
Exome sequencing includes the sequencing of the coding regions and their flanking intronic regions of the human genome.
Requirements for testing
The health care professional as the client ordering the testing is responsible for obtaining the informed approval of the patient whose
sample is sent for exome sequencing. The client is responsible for providing genetic consultation to the patient both before and after
the test. Testing is not a substitute for professional medical advice, genetic counseling, diagnosis or treatment.
Sample material for testing is 2-4 ml of blood with anticoagulant EDTA or 4 µg of DNA. Biological parents’ samples are needed for
exome sequencing of parents-child trios.
The sample material sent for testing is used only to perform the requested testing. The remaining sample material is stored; no other
laboratory studies are performed with the sample material. If the client wants to repeat the testing with new sample material in the
future, Asper Biotech is not responsible for the differences in the results received.
Before exome sequencing, it is recommended that pre-testing with targeted mutational analysis (e.g., APEX microarray, aCGH,
MLPA) be performed.
Limitations of the exome sequencing
Exome sequencing does not target 100% of the genes in the human genome; approximately 97% of exons are targeted. However,
~10% of exons may not be covered at sufficient levels to reliably call heterozygous variants. Each individual may have slightly
different coverage yield distributions across the exome. Clinical sensitivities and specificities of any individual exome are not
calculated. Rare variants at the probe target site may affect analytical sensitivity.
Exome sequencing is limited in detecting the following types of mutations (this list might not be exhaustive):
 large rearrangements
 copy number variation mutations (large deletions/duplications)
 mitochondrial genome mutations
 epigenetic factors
 mosaic mutations
 uniparental disomy
 mutations in repetitive or high GC rich regions
 mutations in genes with corresponding pseudogenes or other highly homologous sequences
Exome sequencing may not identify the cause of the disease despite the presence of variations in the DNA. It should be noted that
current knowledge on the genetics of a disease or pathogenic disorder or on the interactions of various genes may be incomplete.
If exome sequencing identifies the genetic cause of a disorder, it is possible that this knowledge will not help with the prognosis and
management of the disease.
Result reporting
Genotyping service
All detected variants are reported as an annotated VCF file in Excel format (a list of variants and quality scores). Genotyping service
results are reported in 13 weeks.
Expanded genotyping service
In addition to detected variants reported as an annotated VCF file, bioinformatic analysis (e.g., SIFT, PolyPhen2, LRT,
MutationTaster, MutationAssessor, FATHMM, GERP++, PhyloP, SiPhy, variant frequencies) is performed to identify the most likely
disease associated variants. Expanded genotyping service results are reported in 15 weeks.
Exome sequencing of parents-child trios is available upon request; it is not included in the price of proband’s exome sequencing.
There is the possibility that the family relationships are not as reported (e.g., non-paternity). In such instances, the health care
provider is contacted to discuss further testing.
The interpretation of the results is based on the current knowledge of molecular biological data, and it may change over time as
more information becomes available. Negative results (no mutation detected) do not exclude the presence of a predisposition for
genetic diseases. The exome sequencing data (FASTQ files) is stored for at least 5 years after the results are issued.
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