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Genetic Chromosome


Karyotyping (Gynec. ,paed.)
Sr. No
Test
Sample
Container type
Transportation temp. and time
Turn out Time
1
Peripheral blood cells For Karyotyping [Single]
Peripheral blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
7-10 days
2
Peripheral blood cells For Karyotyping [couple]
Peripheral blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
7-10 days
3
Cord Blood Sample For Karyotyping (Abortus)
Cord blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
7-10 days
4
Cord Blood Sample For Karyotyping (prenatal)
Cord blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
7-10 days
5
Products Of Conception [POC]
Placental tissue/ fetal toe tissue
Sterile tissue culture container with normal saline or culture media
Ambient 24-48hr
15-20 days
6
Amniotic Fluid [AF]
Amniotic fluid
2 Sterile Tubes (15 ml)
Ambient 4-8hr
15-20 days
7
Chorionic Villus Sample [CVS]
Chorionic villi
Sterile tissue culture container with normal saline or culture media
Ambient 4-8hr
15-20 days
8
Fragile X Syndrome
Peripheral blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
10-12 days
9
Fragile X Syndrome (prenatal)
Amniotic fluid/ chorionic villi
2 Sterile Tubes (15 ml)/ Sterile tissue culture container with normal saline or culture media
Ambient 4-8hr
15-20 days
10
High Resolution Chromosome Study
Peripheral blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
12-15 days
11
Buccal Mucosa For X - Y Study (ambiguous genetalia)
Buccal cells
Sterile tissue culture container with normal saline or culture media
Ambient 24-48hr
3-4 days

FISH – Fluorescence In situ Hybridization
Sr. No
Test
Sample
Container type
Transportation temp. and time
Turn out Time
1
Prader villi/Angelman 15 q11
Peripheral blood
Sodium heparin Vacutainer
Ambient
3-4 days
2
DiGeorge
Peripheral blood
Sodium heparin Vacutainer
Ambient
3-4 days
3
Prenatal panel 13/21 18/X/Y
Cord blood
Sodium heparin Vacutainer(3ml)
Ambient
3-4 days
4
Sperm FISH 13/21 18/X/Y
Semen
Sterile container
Ambient
3-4 days
5
Trisomy 21 (postnatal)
Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
6
Prenatal karyotyping + FISH (13/18/21 X/Y)
Amniotic fluid/CVS
Sterile container/medium Container
Ambient
FISH 3-4 days
7
POC Karyotyping +FISH ((13/18/21 X/Y))
Placental tissue/toe tissue
Sterile tissue culture container with normal saline or culture media
Ambient
FISH 3-4 days

Inovative Test
Sr. No
Test
Sample
Container
Temperature
TAT
1
Sperm DNA Fragmentation
Semen
Sterile container
Ambient
3-4
2
Sperm FISH
Semen
Sterile
Ambient
3-4
3
Sperm preparation for IUI
Semen
Sterile container
Ambient
2 Hr
4
Reactive Oxygen
Semen
Sterile container
Ambient
4 Hr

Advance Test
Sr. No
Test
Sample
Container type
Transportation temp. and time
Turn out Time
1
Chromosome Micro array
Blood Bone marrow Amniotic Fluid CVS POC
EDTA whole blood/ Marrow /Amniotic Fluid in sterile tube/CVS in medium in sterile tube
Ambient
12-15 days
2
NGS-Next Generation Sequencing
Blood Bone marrow Amniotic Fluid CVS POC
EDTA whole blood/ Marrow /Amniotic Fluid in sterile tube/CVS in medium in sterile tube
Ambient
12-15 days
3
NIFT- Non-Invasive Prenatal Fetal Trisomy Test
Blood sample of expected mother
10 ml blood in a special tube provided by GeNe CaRe
Ambient
10 days

PCR Based Test
Sr. No
Test
procedure
Container type
Turn out Time
1
BMD/DMD-DUCHENNE/ BECKER MUSCULAR DYSTROPHY (This test is no for carrier detection thus , specimen from the males only accepted) DMD/BMD DELETION AND DUPLICATION
MULTIPLEX PCR
EDTA WHOLE BLOOD
6 days
2
BETA THALASEMIA MUTATION DETECTION COUPLE (IVS1-5 G-C, 619 BP DELETION, cd 8/9+G, IVS1-1 G-T, 41/42-TTCT)
MULTIPLEX PCR
EDTA WHOLE BLOOD
8 days
3
BETA THALASEMIA MUTATION DETECTION(IVS1-5 G-C, 619 BP DELETION, cd 8/9+G, IVS1-1 G-T, 41/42-TTCT) PRENETAL
MULTIPLEX PCR
AMNIOTIC FLUID/CVS IN STERILE TISSUE CULTURE MEDIA OR SALINE/ FETAL BLOOD IN EDTA+ EDTA WHOLE BLOOD FOR BOTH
8 days
4
ALPHA THALASSEMIA MUTATION DETECTION 3.7α, 4.2α, FILα, SEAα THAIα
MULTIPLEX PCR
EDTA WHOLE BLOOD
8 days
5
ALPHA THALASSEMIA MUTATION DETECTION 3.7α, 4.2α, FILα, SEAα THAIα PRENATAL
MULTIPLEX PCR
EDTA WHOLE BLOOD FOR BOTH PARENTS
8 days
6
FRAGILE X (FMR1) MUTATION SCREEN
TRIPLET PRIMED PCR FRAGMENT ANALYSIS
EDTA WHOLE BLOOD
9 DAYS
7
SPINAL MUSCULAR ATROPHY MICRODELETION PCR
PCR –RFLP
EDTA WHOLE BLOOD
9 DAYS
8
SPINAL MUSCULAR ATROPHY MICRODELETION PCR PRENATAL
PCR –RFLP
AMNIOTIC FLUID/CVS IN STERILE TISSUE CULTURE MEDIA OR SALINE/ FETAL BLOOD IN EDTA+ EDTA WHOLE BLOOD FOR BOTH PARENTS
9 DAYS
9
SICKLE CELL DNA PCR
PCR
EDTA WHOLE BLOOD
9 DAYS
10
SICKLE CELL DNA PCR PRENATAL
PCR
AMNIOTIC FLUID/CVS IN STERILE TISSUE CULTURE MEDIA OR SALINE/ FETAL BLOOD IN EDTA+ EDTA WHOLE BLOOD FOR BOTH PARENTS
9 DAYS
11
Y CHROMOSOME MICRODELETION
MULTIPLEX PCR
EDTA WHOLE BLOOD
9 DAYS
12
TB PCR (MYCOREAL)
RT PCR
SPUTUM/BAL/URINE/FNAC/ACITIC/PLEURAL/CSF FLUIDS/TISSUE IN STERILE NORMAL SALINE/PARAFFIN BLOCK
3 DAYS

Karyotyping for Leukemia
Sr. No
Test
Sample
Container type
Transportation temp. and time
Turn out Time
1
Bone Marrow/ Peripheral blood cells For Karyotyping
Bone Marrow/Peripheral blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
7 days
2
Chromosome Breakage Syndrome
Peripheral blood
Sodium heparin Vacutainer(3ml)
Ambient 24-48hr
7-10 days

FISH FOR LEUKEMIA
Sr. No
Test
Sample
Container type
Transportation temp. and time
Turn out Time
1
t(9,22) BCR/ABL [CML, AML, ALL]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
2
t(15,17) PML/RARA [AML - M3] [ APML]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
3
t(8,21) AML1/ETO [AML - M2]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
4
t(12,21) TEL/AML1 [ALL]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
5
del5q [MDS]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
6
del7q [MDS]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
7
11q23 MLL [AML, ALL]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
8
CHR 13q [ CLL]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
9
CBFB t(16,16), inv 16
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
10
X/Y probe for XX/XY ratio in mis match bone marrow transplant
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
11
AML PANEL KARYOTYPING + FISH AML/ETO PML/RARA 11q MLL Inv 16
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
12
ALL PANEL CYTOGENETICS + FISH [BCR/ABL, TEL/AML1, MLL, E2A]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
13
MDS PANEL CYTOGENETICS + FISH [del(5q), del(7q), del(20q)]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
14
CLL PANEL CYTOGENETICS + FISH [del(6q), del(11q), trisomy 12, del(13q), del(17p)]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
15
MM PANEL CYTOGENETICS + FISH [del(11q), del(13q), IgH, del(17q)]
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days
16
CML CYTOGENETICS + FISH BCR/ABL
Bone marrow/ Peripheral blood
Sodium heparin vacutainer
Ambient
3-4 days

PCR for Leukemia
Sr. No
Test
Sample
Container type
Transportation temp. and time
Turn out Time
1
BCR/ABL- quantitative
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
3-4 days
2
BCR/ABL- quantitative
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
3-4 days
3
PML Ra Ra t(15,17), quantitative
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
3-4 days
4
PML Ra Ra t(15,17), quantitative
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
3-4 days
5
ALL PANEL
CYTOGENETICS +PCR (BCR/ABL , TEL/AML1, MLL, E2A)
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
5-7 days
6
ACUTE LEUKEMIA MINI PANEL
CYTOGENETICS +PCR (AML/ETO, PML/RARA,INV(16), BCR/ABL, TEL/AML1,MLL.E2A),
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
5-7 days
7
AML PANEL
AML/ETO, PML/RARA,INV(16). MLL
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
5-7 days
8
MULTIPLEX PANEL (CYTOGENETICS AND PCR FOR 28 TRANSLOCATION & 80 BREAKPOINTS)(CML,AML,ALL)
BONE MARROW –EDTA(specimen to reach us within 48 hrs) + CLINICAL HISTORY
Ambient
5-7 days

HLA TYPING
Sr. No
Test
Sample
Container type
Transportation temp. and time
Turn out Time
1
HLA TYPING B27
PERIPHERAL BLOOD
EDTA VACCUTAINER 3ML
Ambient
3-4 days
2
HLA TYPING A B DR
PERIPHERAL BLOOD
EDTA VACCUTAINER 3ML
Ambient
3-4 days
3
HLA TYPING A B DR DQ (ANY ONE)
PERIPHERAL BLOOD
EDTA VACCUTAINER 3ML
Ambient
3-4 days
4
HLA HIGH RESOLUTION A B DR
PERIPHERAL BLOOD
EDTA VACCUTAINER 3MLX2
Ambient
3-4 days
5
DSA ( DONOR SPECIFIC ANTIBODY WITH LYMPHOCYTE CROSS MATCH –SOLID ORGAN TRANSPLANT
PERIPHERAL BLOOD
DONOR: SODIUM HEPARIN VACCUTAINER 3MLX2 RECIEPENT PLAIN VACCUTAINER 3MLX2
Ambient
3-4 days