Genomics

SL. No	NAL CODE	TEST- CODE	TEST NAME	DEPARTMENT	TEST CATEGORY	TEST METHODOLOGY	TEST COMPONENTS	SPECIMEN TYPE/ VOLUME / CONTAINER	COLLECTION INSTRUCTIONS	SPECIMEN STABILITY	SCHEDULE	CUT-OFF	TAT	MRP in INR.	REQUISITIONS AND CLINICAL PREREQUISITES	ACCREDITATION/QUALITY ASSUARANCE STATEMENT
1			Single gene analysis via NGS	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNA	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		28 Working Days	15000	TRF Mandatory & G-Form in case of prenatal SAMPLE
2			ORION (Whole Exome)	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNA	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		28 Working Days	22000	TRF Mandatory & G-Form in case of prenatal
3			ORION Focus	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNA	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		28 Working Days	16000	TRF Mandatory & G-Form in case of prenatal
			ORION Trio	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNA	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		28 Working Days	60000	TRF Mandatory & G-Form in case of prenatal
4			Single gene scale up to ORION	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNA	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		28 Working Days	10000	TRF Mandatory & G-Form in case of prenatal
5			BRCA1 and BRCA2 sequencing by NGS	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNA	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		21 Working Days	20000	TRF, Consent Mandatory
6			Mitochondrial genome sequencing	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline),	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		28 Working Days	15000	TRF Mandatory & G-Form in case of prenatal
7			Whole genome sequencing Trio	Genomics	inherited genetics	NGS		Blood EDTA(4ml)	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch Wise		65 Working Days	2,90,000	TRF Mandatory & G-Form in case of prenatal
8			Whole genome sequencing	Genomics	inherited genetics	NGS		Blood EDTA(4ml)	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch Wise		65 Working Days	1,25,000	TRF Mandatory & G-Form in case of prenatal
9			LUMOS- COMPREHENSIVE COUPLE CARRIER SCREENING (SMA+FragileX)	Genomics	inherited genetics	NGS		Blood EDTA(4ml)	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch Wise		28 Working Days	35000	TRF Mandatory & G-Form in case of prenatal
10			ORION + Microarray	Genomics	inherited genetics	NGS		Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline)	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ). POC: submit in a sterile tube with culture medium AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. Extracted DNA, Refrigerated: 5 days; Frozen: 6 months POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch Wise		35 Working Days	40000	TRF Mandatory & G-Form in case of prenatal
11			Beta thal common mutations	Genomics	inherited genetics	sanger sequencing		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch Wise		5 days	3000	TRF Mandatory
12			beta globin gene sequencing	Genomics	inherited genetics	sanger sequencing		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch Wise		10 days	6000	TRF Mandatory
13			congenital adrenal hyperplasia testing: CYP21A2 analysis (seq+ MLPA)	Genomics	inherited genetics	Sequencing + MLPA		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch Wise		30 days	15000	TRF Mandatory
14			Duchenne Muscular Dystrophy (DMD) by MLPA	Genomics	inherited genetics	MLPA		EDTA Blood (3ml x 2)/Amniotic Fluid(15-20ML)/ CVS(20-40mg in saline)	1. Invert several times to mix blood. 2. Send specimen in original tube	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.	Batch Wise		25 Days	8000	TRF Mandatory & G-Form in case of prenatal
15			DNA isolation and storage	Genomics	inherited genetics										TRF Mandatory
16			Fragile X testing	Genomics	inherited genetics	PCR		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		25 Days	7500	TRF Mandatory
17			Friedreich Ataxia Mutation Analysis	Genomics	inherited genetics	PCR		Whole blood 3ml in EDTA vacutainer	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		20 Days	6500	TRF Mandatory
18			Huntington Disease Molecular Assay	Genomics	inherited genetics	PCR		Blood EDTA/4ml		EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		10 Days	5500	TRF Mandatory
19			Maternal cell contamination	Genomics	inherited genetics	STR Analysis		4ml EDTA mothers blood + AF sample	EDTA vacutainer AF :Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months AF : Ship and maintain specimen at room temperature.	Routine			6000	TRF Mandatory, G - Form in case of Pre natal Sample
20			Prader-Willi /Angleman Syndrome By MS-MLPA Technique	Genomics	inherited genetics	MLPA		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch wise		20 days	12500	TRF Mandatory
21			Myotonic dystrophy Type1 & 2	Genomics	inherited genetics	PCR		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		30 days	13000	TRF Mandatory
22			Myotonic dystrophy Type1	Genomics	inherited genetics	PCR		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		30 days	7500	TRF Mandatory
23			Myotonic dystrophy Type 2	Genomics	inherited genetics	PCR		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		30 days	7500	TRF Mandatory
24			SMA-Digital PCR	Genomics	inherited genetics	PCR		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		7 days	8000	TRF Mandatory
25			SCA (Spinocerebellar Ataxia) Single Form	Genomics	inherited genetics	PCR		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		10 Days	2500	TRF Mandatory
26			SCA (Spinocerebellar Ataxia) PANEL	Genomics	inherited genetics	PCR		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Routine		15 days	10000	TRF Mandatory
27			Sanger validation	Genomics	inherited genetics	sanger sequencing		Blood EDTA/4ml	EDTA vacutainer	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months	Batch wise		10 days	5000	TRF Mandatory
28			Microarray Rapidsure, Prenatal	Genomics	inherited genetics	Microarray		AF (15-20ml), CVS (20-40 mg in saline)		AF : Ship and maintain specimen at room temperature. CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze.	Batch wise		5 days	12000	TRF Mandatory & G-Form in case of prenatal
29			Microarray Rapidsure, Constitutional	Genomics	inherited genetics	Microarray	Low Resolution	Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), CVS (20-40 mg in saline)	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) POC: submit in a sterile tube with culture medium AF :Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. POC : Refrigerate. Do not freeze. AF : Ship and maintain specimen at room temperature.	Batch wise		12 days	12000	TRF Mandatory
30			Microarray Rapidsure Deepdive	Genomics	inherited genetics	Microarray	High Resolution	Blood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), CVS (20-40 mg in saline)	Transport 1 mL whole blood to sterile tube, CVS transport tube (sterile specimen container with transport medium) POC: submit in a sterile tube with culture medium	EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours. POC : Refrigerate. Do not freeze.AF : Ship and maintain specimen at room temperature.	Batch wise		16 days	20000	TRF Mandatory