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 / by e-mail by regular mail
Sample receipt confirmation / 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
Patient’s data needed for invoicing / yes no
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

TESTS REQUIRED

Alzheimer Disease /

Targeted mutation analysis

Amyotrophic Lateral Sclerosis /

NGS panel of genes

Single mutation

/
Autism Spectrum Disorders /

NGS panel of genes

Single mutation

/
Charcot-Marie-Tooth Disease /

NGS panel of genes

Single mutation

/

Del/dup analysis of KIF1B, PMP22 genes

Del/dup analysis of GJB1 gene

Del/dup analysis of MFN2, MPZ genes

Del/dup analysis of GARS, HSPB1, HSBP8, RAB7A, SPTLC1 genes

Del/dup analysis of EGR2, GDAP1, MTMR2, NEFL, SBF2, SH3TC2, PRX genes

Congenital Myopathy and Distal Myopathy / NGS panel of genes
Single mutation /
Del/dup analysis of MTM1, MTMR1 genes
Cornelia de Lange Syndrome / NGS panel of genes
Single mutation
Del/dup analysis of NIPBL gene
Craniosynostosis / NGS panel of genes
Single mutation
Del/dup analysis of TWIST1 gene
Dystonia / NGS panel of genes
Single mutation
Del/dup analysis of ATP1A3, GCH1, PRKRA, SGCE, TH, THAP1, TOR1A genes
Epilepsy / NGS panel of genes
Single mutation
Del/dup analysis of CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3, NHLRC1, PCDH19, SCN1A, SLC2A1, STXBP1, WWOX genes
Fragile X Syndrome / Repeat expansion analysis
TESTS REQUIRED
Frontotemporal Dementia / NGS panel of genes
Single mutation
Del/dup analysis of CRHR1, GRN, MAPT genes
Hereditary Spastic Paraplegia / NGS panel of genes
m.9176T>C mutation analysis in MT-ATP6 gene
Single mutation
Del/dup analysis of ATL1, NIPA1, SPAST, SPG7, REEP1 genes
Joubert Syndrome / NGS panel of genes
Single mutation
Leukodystrophy and Leukoencephalopathy / NGS panel of genes
Single mutation
Del/dup analysis of ABCD1, ASPA, L2HGDH, LMNB1, MLC1, NOTCH3, PLP1 genes
Limb-Girdle Muscular Dystrophy / NGS panel of genes
Single mutation
Del/dup analysis of ANO5, CAPN3, DYSF, FKRP, LCAV3, MNA, MYOT, SGCA, SGCB, SGCD, SGCG, ZMPSTE24 genes
Menkes Disease / Sequencing of ATP7A gene
Single mutation /
Del/dup analysis of ATP7A gene
Microcephaly / NGS panel of genes
Single mutation
Mitochondrial Diseases / Mitochondrial genome sequencing
m.3243A>G mutation analysis in MT-TL1 gene
NGS panel of nuclear genes
Sequencing of ACADS gene
Sequencing of ACADVL gene
Del/dup analysis of ACADVL gene
Single mutation
Del/dup analysis of DGUOK, MPV17, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK genes
TESTS REQUIRED
Neurodegeneration with Brain Iron Accumulation / NGS panel of genes
Single mutation
Del/dup analysis of PANK2, PLA2G6 genes
Parkinson’s Disease / NGS panel of genes
Single mutation
Del/dup analysis of GCH1, LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1 genes
Smith-Lemli-Opitz Syndrome / Sequencing of DHCR7 gene
Single mutation
Spinocerebellar Ataxias / NGS panel of genes
Repeat expansion analysis
Single mutation
Tuberous Sclerosis / NGS panel of genes
Single mutation
Del/dup analysis of TSC1, TSC2 genes
Wilson Disease / Sequencing of ATP7B gene
Single mutation
Del/dup analysis of ATP7B gene

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 carrier testing

presymptomatic testing prenatal testing

Age at the onset of symptoms…………......

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………………………………………………………………………………......

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 Terms and Conditions and Privacy Policy of Asper Biogene (see website for details).

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ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia

phone +372 7307 295 • fax +372 7307 298 • • www.asperbio.com