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Test Identifier Information

 
Registration CodeGDNA
Method

Genomic DNA (including mitochondrial DNA) is isolated from blood, tissue, or cell suspensions using standard procedures.

Diagnostic Use / Indications

Isolation of high quality genomic DNA is required prior to many genetic tests.

Refer to GroupAlpha Thalassaemia: Alpha globin gene deletion analysis ;Antithrombin III Deficiency: SERPINC1 Sequencing ;CADASIL: NOTCH3 Sequencing ;Carnitine palmitoyltransferase II deficiency: CPT2 Sequencing ;Connexin 32: GJB1 Sequencing ;Cowden Syndrome, Multiple Harmartoma Syndrome: PTEN Sequencing ;Craniosynostosis: FGFR2 FGFR3 FGFR1 TWIST1 MSX2 Targeted Sequencing ;Diabetes Insipidus, Arginine Vasopressin Neurophysin II: AVP Sequencing ;Diabetes Insipidus: AQP2 Sequencing ;Diabetes Insipidus: Arginine Vasopressin V2 Receptor (AVPR2) Sequencing ;Exclusion of maternal cell contamination in prenatal chorionic villus samples ;Familial Amyloidotic Polyneuropathy: TTR Sequencing ;Familial Benign Hypercalcaemia: CASR Sequencing ;Familial Defective Apolipoprotein B100 Genotyping ;Familial Hyperaldosteronism Type 1 Genetic Analysis ;Familial Hypercholesterolaemia: LDLR Genetic Analysis ;Familial Hypofibrinogenaemia and Dysfibrinogenaemia: FGA, FGB, FGG Sequencing ;Familial Mediterranean Fever: MEFV Sequencing ;Familial Motor Neuron Disease: SOD1 Sequencing ;Familial Renal Amyloidosis: FGA Sequencing ;Galactosaemia Deficiency: GALT Sequencing ;Haemoglobin Mass Spectrometry: Intact protein analysis ;Haemoglobin: Peptide mapping by ESI Mass Spectrometry ;Hereditary Hyperferritinaemia Cataract Syndrome: FTL Sequencing ;Hereditary Lactase Persistence: LCT 5' Enhancer Genotyping ;Hereditary Motor and Sensory Neuropathy: PMP22 Duplication / Deletion Analysis ;Hereditary Pancreatitis: PRSS1, SPINK1 Targeted Sequencing ;Hereditary Paraganglomia-Phaeochromocytoma Syndrome: SDHB, SDHC & SDHD Sequencing ;Isovaleric Academia: IVD Gene Sequencing ;Leber Hereditary Optic Neuropathy: Targeted Mitochondrial DNA Sequencing ;MCAD Deficiency: ACADM Sequencing ;Microarray, Peripheral blood ;Mitochondrial Myopathy: Targeted Mitochondrial DNA Sequencing ;Multiple Endocrine Neoplasia Type 1: MEN1 Sequencing ;Multiple Endocrine Neoplasia Type 2: RET Sequencing ;Non-syndromic Hearing Loss: GJB2 / GJB6 Analysis ;Peripheral Myelin Protein 22; Charcot-Marie-Tooth Neuropathy: PMP22 Sequencing ;Peripheral Myelin Protein Zero: MPZ Sequencing ;Porphyria testing: PPOX, CPOX, UROD, HMBS, FECH ;Prader Willi/Angelman Syndrome - Methylation Sensitive HRM ;Pseudo-von Willebrand disease: GP1Ba Sequencing ;Rett Syndrome: MECP2 Sequencing ;Skeletal Dyspasia: FGFR3 Targeted Sequencing ;Spinal Muscular Atrophy: SMN1 Genotyping ;Thiopurinemethyl Transferase Deficiency: TPMT Genotyping ;Thyroid Hormone Receptor Beta: THRB Sequencing ;Torsion Dystonia: TOR1A Targeted Sequencing ;Von Willebrand Disease Type 2B: VWF Exon 28 Sequencing ;Von Willebrand Disease Type 2N (Normandy): VWF Exons 18-24 Sequencing ;
External Price$149.02(Exclusive of GST)
  

Specimen Collection

 
Specimen Collection Protocols


 

Patient SpecimenVarious. Please see Additional Information below.
Sample Delivery to LabOvernight or same day courier, ambient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 364 0548
Test Availability9am to 5pm, Monday to Friday
Turnaround Time7 days
Additional Information

Whole EDTA blood is the most common specimen type for DNA testing. However other sources of DNA are desirable in some cases. These include fixed or fresh tissue, cultured cells, chorionic villus, amniotic fluid, buccal cells or bladder cells. Please contact the laboratory to discuss specimen requirements.

Please note that DNA surplus to testing requirements is archived in the laboratory for quality control purposes.

Delphic Number Test Number7327

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