Asiri Centre for Genomic and Regenerative Medicine

An ISO 9001:2008 certified Genetic Diagnostic Laboratory
CYTOGENETIC AND MOLECULAR GENETIC TEST DIRECTORY
Last Updated: January 2010

Test Prices are in Sri Lankan Rupees (1 US$ = 100 LKR approximately)

Cytogenetics for detection of constitutional chromosome abnormalities and chromosome abnormalities in haematological malignancies

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN001	Karyotyping	Blood	5800	36 days
GEN005	Karyotyping	Bone Marrow	8700	14 days
GEN022	Chromosome Fragility Testing	Blood/Bone Marrow	8700	30 days

Molecular Genetic Tests for Infections Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN003	Mycobacterium tuberculosis detection by real time PCR	Any Clinical Specimen	2600	7 days
GEN039	PCR culture for rapid detection of pathogens	Any Clinical Specimen	4650	3 days
GEN023	Rapid Diagnosis of Pathogens in clinical samples by 16s RNA gene sequencing	Any Clinical Specimen	5800	7 days
GEN082	Detection of Leptospirosis by PCR	Any Clinical Specimen	5800	7 days
GEN103	Real time PCR for Treponema pallidum	Any Clinical Specimen	6300	7 days
GEN004	Hepatitis B detection by RT-PCR	Any Clinical Specimen	4200	5 days
GEN037	Hepatitis B genotyping by sequencing	Any Clinical Specimen	4650	7 days
S74	Real time PCR for HBV detection and viral load testing	Any Clinical Specimen	5800	7 days
GEN007	Real time PCR for Hepatitis C detection	Any Clinical Specimen	5800	7 days
GEN095	Hepatitis C genotyping by sequencing	Any Clinical Specimen	7900	8 days
S75	Real time PCR for HCV detection and viral load testing	Any Clinical Specimen	7350	7 days
GEN014	RT PCR for Dengue Virus detection	Any Clinical Specimen	4650	2 days
GEN057	RT-PCR for Chikungunya Virus	Any Clinical Specimen	6300	2 days
GEN040	Real time PCR for Verizella Zooster Virus (VZV)	Any Clinical Specimen	3800	7 days
GEN041	Real time PCR for Herpes Simplex Virus type 1 & 2 (HSV 1 & 2)	Any Clinical Specimen	7150	5 days
GEN079	Real time PCR for Herpes Simplex Virus type 1 (HSV 1)	Any Clinical Specimen	3700	7 days
GEN077	Real time PCR for Herpes Simplex Virus type 2 (HSV 2)	Any Clinical Specimen	3700	7 days
GEN092	Real time PCR for HSV type 1 detection and viral load testing	Any Clinical Specimen	5600	7 days
GEN093	Real time PCR for HSV type 2 detection and viral load testing	Any Clinical Specimen	5600	7 days
GEN094	Real time PCR for HSV type 1 & type 2 detection and viral load testing	Any Clinical Specimen	7500	7 days
GEN043	Real time PCR for Japanese Encephalitis Virus (JE)	Any Clinical Specimen	8300	7 days
GEN091	Real time PCR for JE detection and viral load testing	Any Clinical Specimen	9450	7 days
GEN045	Real time PCR for Cytomegalovirus (CMV)	Any Clinical Specimen	3900	5 days
GEN085	Real time PCR for Cytomegalovirus (CMV) detection and viral load testing	Any Clinical Specimen	4950	5 days
GEN046	Viral Studies Include detecting JE, CMV, VZV, HSV 1& HSV 2	Any Clinical Specimen	13650	8 days
GEN042	Real time PCR for Ebstein Bar Virus	Any Clinical Specimen	5350	5 days
GEN056	Real time PCR for Human Papilioma Virus (HPV 16 & 18)	Any Clinical Specimen	9250	5 days
GEN076	Real time PCR for Human Immunodeficiency Virus type 1 & 2 (HIV 1 & 2)	Any Clinical Specimen	7000	7 days
GEN074	Real time PCR for Human Immunodeficiency Virus 1(HIV 1)	Any Clinical Specimen	5250	7 days
GEN078	Real time PCR for Human Immunodeficiency Virus 2(HIV 2)	Any Clinical Specimen	5250	7 days
GEN083	Real time PCR for Avian Influenza (H5N1)	Blood	6750	5 days
GEN102	Real time PCR for Parvovirus B 19	Any Clinical Specimen	6300	5 days
GEN072	Detection of Malaria Parasites by PCR	Blood	4100	5 days
GEN073	Detection of Leishmania parasite by PCR	Any Clinical Specimen	4100	7 days
GEN104	Real time PCR for Toxoplasma gondii	Any Clinical Specimen	5250	7 days
GEN106	Rapid diagnosis of fungi in clinical samples by 28s rRNA gene sequencing	Any Clinical Specimen	6850	7 days

Molecular Genetic Tests for Prenatal Screening

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN008	Aneuploidy Screening of Amniotic Fluid by MLPA	Amniotic Fluid	17350	8 days 12 hrs
GEN025	Aneuploidy Screening of Abortus Material by MLPA	Abortus tissue	18500	8 days 12 hrs

Molecular Genetic Tests in Sex Determination/Infertility

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN009	SRY Gene Detection by PCR	Blood	4650	7 days
GEN020	Y- Chromosome Microdeletion Screening by Multiplex PCR	Blood	4650	14 days

Molecular Genetic Tests for Dysmorphic Syndromes

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN064	22q11 deletion testing by MLPA	Blood	9250	30 days
GEN107	Detecti0n of oculocutaneous Albinism (OCA) Type 1 by Mutation Screening	Blood	15750	30 days
GEN110	X- Linked symdromic deafness by sequencing POU3F4 gene	Blood	15750	30 days
GEN111	Achondroplasia by sequencing Exon 8 FGFR3 gene	Blood	7000	7 days

Molecular Genetic Tests for Metabolic Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN006	Screening for Organic Acid and Amino Acid Related Metabolic Disorders by Mass Spectrometry	Urine/Blood	11500	30 days
GEN010	Glycogen Storage Disease (GSD) Type 1a: Screening the G6PC gene for mutation by DNA sequencing (index case)	Blood	25400	30 days
GEN010	Glycogen Storage Disease (GSD) Type 1a: Screening the G6PC gene for mutation by DNA sequencing (other family members)	Blood	5000	30 days
GEN071	DNA based Diagnosis & Carrier Testing for X-Linked Adrenoleukodystrophy (X-ALD)	Blood	19100	30 days
GEN061	Glycogen Storage Disease (GSD) Type 1b: Screening the G6P transporter (SLC37A4) gene for mutation by DNA sequencing (index case)	Blood	19100	30 days
GEN061	Glycogen Storage Disease (GSD) Type 1b: Screening the G6P transporter (SLC37A4) gene for mutation by DNA sequencing (other family members)	Blood	5000	30 days
GEN071	X linked Adrenoleukodystrophy: Screening the ALD gene for mutation by DNA sequencing	Blood	19100	30 days
GEN086	Detection of alpha 1 antitrypsin deficiency: Screening for PI*Z and PI*S alleles in the SERPINA1 gene	Blood	4200	30 days
GEN105	Screening for Tyrosinemia by sequencing FAH gene	Blood	21000	31 days

Molecular Genetic Tests for Respiratory Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN081	Detection of Cystic Fibrosis: Screening for DF508 mutation in the CFTR gene	Blood	3150	15 days

Molecular Genetic Tests for Neurological Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN068	Fragile X Syndrome: Screening for triplet repeat expansions by methylation sensitive PCR	Blood	2900	30 days
GEN015	Becker Muscular Dystrophy: Screening the dystrophin gene for deletions/duplications by MLPA	Blood	20200	30 days
GEN016	Duchenne Muscular Dystrophy: Screening the dystrophin gene for deletions/duplications by MLPA	Blood	20200	30 days
GEN063	Huntington Disease: Screening for triplet repeat expansions by fluorescent labelled PCR/Automated Fragment Analysis	Blood	5200	30 days
GEN087	Detection of Spinal Muscular Atrophy (SMA) type 1: Screening for homozygous deletion in the exon 7 and 8 of the SMN1 gene	Blood	4400	30 days
GEN113	Detection of spinoceribellar ataxia (SCA) type 1,2,3,6 and 7	Blood	7500	30 days

Molecular Genetic Tests for Oncological Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN018	Detection of Philadelphia Chromosome by RT-PCR	Blood/Bone Marrow	2900	7 days
GEN021	Detection of Prognostically Significant Translocation in Acute Lymphoblastic Leukaemia by multiplex RT-PCR	Blood/Bone Marrow	4000	7 days
GEN054	Detection of the JAK2 V617F mutation by PCR	Blood/Bone Marrow	2450	7 days
GEN097	Detection of JAK 2 Exon 12 mutations in JAK2 V617F negative patients by sequencing	Blood/Bone Marrow	5250	8 days
GEN058	Detection of the PML/RARA transcript by RT-PCR	Blood/Bone Marrow	5800	7 days
GEN084	Hypereosinophilic syndrome: Detection of FIP1L1-PDGFRA fusion gene by RT PCR	Blood/Bone Marrow	6300	15 days
GEN026	Neuroblastoma: Screening for NMYCN amplification and other prognostically significant chromosome abnormalities by MLPA	Tumour	13900	30 days
GEN027	Retinoblastoma: Screening for deletions and duplications in the RB1 gene by MLPA	Blood	11000	30 days
GEN062	Retinoblastoma: Screening the RB1 gene for mutations by DNA sequencing (index case)	Blood	42750	60 days
GEN062	Retinoblastoma: Screening the RB1 gene for mutations by DNA sequencing (other family members)	Blood	5000	60 days
GEN059	Breast Cancer: Screening the BRCA1 gene for mutations by DNA sequencing (index case)	Blood	63500	60 days
GEN059	Breast Cancer: Screening the BRCA1 gene for mutations by DNA sequencing (other family members)	Blood	5000	60 days
GEN060	Breast Cancer: Screening the BRCA2 gene for mutations by DNA sequencing (index case)	Blood	75000	60 days
GEN060	Breast Cancer: Screening the BRCA2 gene for mutations by DNA sequencing (other family members)	Blood	5000	60 days
GEN108	Quantification of BCR-ABL fusion gene By real time PCR for initial Diagnosis	Blood	20000	7 days
GEN109	Quantification of BCR-ABL fusion gene By real time PCR for follow up Diagnosis	Blood	14700	7 days

Molecular Genetic Tests for Haematological Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN019	Hereditary Heamochromotosis: Screening the HFE gene for C282Y and H63D mutations by DNA screening	Blood	7500	30 days
GEN029	Alpha Thalassaemia: Deletion Screening by PCR	Blood/Amniotic Fluid	4650	30 days
GEN028	Alpha Thalassaemia: Screening the HAA gene for point mutations by DNA sequencing (index case)	Blood/Amniotic Fluid	11500	30 days
GEN028	Alpha Thalassaemia: Screening the HAA gene for point mutations by DNA sequencing (other family members)	Blood/Amniotic Fluid	5000	30 days
GEN030	Beta Thalassaemia: Screening the HBB gene for mutations by DNA sequencing (index case)	Blood/Amniotic Fluid	15600	30 days
GEN030	Beta Thalassaemia: Screening the HBB gene for mutations by DNA sequencing (other family members)	Blood/Amniotic Fluid	5000	30 days
GEN031	Beta Thalassaemia: Screening the HBB gene for common Sri Lankan mutations by sequencing (index case)	Blood/Amniotic Fluid	8700	30 days
GEN031	Beta Thalassaemia: Screening the HBB gene for common Sri Lankan mutations by sequencing (other family members)	Blood/Amniotic Fluid	5000	30 days
GEN034	Haemophilia A: Screening for the inversion 22 mutation in the Factor VIII gene by PCR	Blood/Amniotic Fluid	8100	30 days
GEN035	Haemophilia A: Screening the Factor VIII gene for mutations by sequencing (index case)	Blood/Amniotic Fluid	56600	30 days
GEN035	Haemophilia A: Screening the Factor VIII gene for mutations by sequencing (other family members)	Blood/Amniotic Fluid	5000	30 days
GEN036	Haemophilia B: Screening the Factor IX gene for mutations by sequencing (index case)	Blood/Amniotic Fluid	28900	30 days
GEN036	Haemophilia B: Screening the Factor IX gene for mutations by sequencing (other family members)	Blood/Amniotic Fluid	5000	30 days
GEN049	Factor V 1691G>A (Leiden) mutation testing by PCR/RFLP	Blood	2300	7 days
GEN050	Prothrombin 20210G>A mutation testing by DNA sequencing	Blood	2100	7 days
GEN051	Methylene tetrahydrofolate reductase (MTHFR) 677C>T mutation testing by PCR/RFLP	Blood	2100	7 days
GEN053	Genetic Thrombophilia screen (Factor V 1691G>A+Prothrombin 20210G>A+MTHFR677C>T)	Blood	3800	7 days
GEN098	Congenital Polycythemia: Screening for mutations in the Von Hippel-Lindau (VHL) gene by sequencing	Blood	6850	14 days
GEN099	Congenital Polycythemia: Screening for mutations in the BPG mutase (BPGM) gene by sequencing	Blood	6850	14 days
GEN100	Congenital Polycythemia: Screening for mutations in the Erythropoietin receptor (EPOR) gene by sequencing	Blood	6850	14 days
GEN101	Congenital Polycythemia: Detection of High Oxygen-affinity Hemoglobinopathy by screening for mutation in the HBB gene	Blood	15600	15 days

Molecular Genetic Tests for Endocrine Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN033	MODY1: Screening the HNF4alpha gene for mutations by DNA sequencing (index case)	Blood	17350	30 days
GEN033	MODY1: Screening the HNF4alpha gene for mutations by DNA sequencing (other family members)	Blood	7500	30 days

Molecular Genetic Tests for Cardiac Disorders

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN017	DMD related cardiomyopathy: Screening the dystrophin gene for deletions/duplications by MLPA	Blood	20200	30 days
GEN065	Hypertrophic Obstructive Cardiomyopathy: Screening for genetic markers that predispose to sudden death by DNA sequencing	Blood	7900	30 days
GEN066	Hypertrophic Obstructive Cardiomyopathy: Screening for genetic markers that predispose to cardiac arrhythmia by DNA sequencing	Blood	7600	30 days
GEN067	Hypertrophic Obstructive Cardiomyopathy: Screening for genetic markers that predispose to both sudden death and cardiac arrhythmia by DNA sequencing	Blood	14500	30 days

Molecular Genetic Pharmacogenomic Tests

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN048	Warfarin: Genotyping the CYP2C9 gene by DNA sequencing	Blood	7000	7 days
GEN052	Warfarin: Genotyping the VKORC1 gene –1639G>A mutation by DNA sequencing	Blood	4000	7 days
GEN032	Rifampicin: Detection of Rifampicin resistant Mycobacterium tuberculosis by PCR	Any Clinical Specimen	8700	7 days
GEN080	Pyremethamine: Detection of pyremethamine resistance in Malaria by PCR	Blood	3700	7 days
GEN096	Methicillin: Detection of Methicillin resistance in Staphylococcus aureus by PCR	Any Clinical Specimen	3150	4 days

Research Support Services

Test Code	Test Description	Specimen	Cost	Reporting Time
GEN088	DNA extraction with mini kit	Any Biological Material	1400	Inquire
GEN089	DNA extraction with midi kit	Blood	2650	Inquire
GEN002	DNA extraction	Blood	3500	Inquire
GEN090	DNA extraction with maxi kit	Blood	5250	Inquire
GEN038	Automated DNA Sequencing only for 4 samples	Inquire	2900	Inquire
GEN075	Automated DNA Sequencing with Purification and Cycle Sequencing (1 run)	Inquire	2000	Inquire
GEN069	Fragment Analysis - Resuspended Samples Direct Sample	Direct PCR Product	3100	Inquire
GEN070	Fragment Analysis - Resuspended Samples	Resuspended in formamide with size standard	2800	Inquire

Human Identification

GEN112

Y - STR typing of males

Blood / Tissue

17500

14 days

Sample requirements, collection and transportation:

· When sending blood for cytogenetic tests (karyotyping) please send 3ml of blood in a sterile sodium heparin vacutainer. 

· When sending bone marrow for cytogenetic tests (karyotyping) please contact the laboratory and obtain a vial with the transport medium and follow the instructions for collection and transport of samples.

· When sending blood for molecular genetic studies please send 3ml of blood in a sterile EDTA vacutainer.

· When sending amniotic fluid for testing please send 10ml amniotic fluid in a sterile container.

· When sending other body fluids for testing please send 5ml of the fluid in a sterile container.

Vacutainers and sterile containers can be collected from Asiri Hospitals, Regional Laboratories, and Collection centers

Please transport samples to the lab as fast as possible once collected. If delays are encountered then send them on a cool box, please do not freeze.

Please note that the above prices are for samples sent directly to Asiri Surgical Hospital at Kirimandala Mawatha, Colombo 5 or Asiri Hospital at Kirula Road, Colombo 5. Other collection centers will charge 10% extra for delivery charges.

Obtaining Consent:

· Please note that it is advisable to obtain written informed consent before genetic testing and to provide both pre-test and post-test counseling. You can download the request forms and consent forms from the home page of this website.

Referral forms:

· Please note that it would help us immensely if you provide us with clinical and other investigation results, if available, to provide you a good quality report. Special referral forms and clinical information sheets are available. You can obtain them by contacting us.

Samples from abroad:

· Please note that all above mentioned test prices are in Sri Lankan rupees. You may send a US$ bank draft drawn in favour of the Asiri Surgical Hospital for an equal value [Current (May 2008) exchange rate is 1US$=110 Sri Lankan Rupees].

· Samples should be couriered to the Genetic Laboratory, Asiri Surgical Hospital, 21, Kirimandala Mawatha, Colombo 5, Sri Lanka.

· The preferred courier is ARAMEX, but other couriers such as TNT, FEDEX, and DPEX also operate in Sri Lanka.

· Phone:  +94 11 4524400 ext 2503 or 2514, + 94 11 4512792, + 94 11 5345802

· Fax:  + 94 11 5345802

· email: geneticlab@asiri.lk

Asiri Surgical Hospital, Kirimandala Mw, Colombo 00500, Sri Lanka

94 -011-4524400 ext 2514/2503, acgrm@asiri.lk