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8288
JAK2 GENE (V617F MUTATION), BLOOD
Method:
Real Time PCR.
Mounting:
Delivery period:15
Sample:
3 mL Total blood Tripotassium EDTA (2-8 ºC - Refrigerate)
Request form:
Clinical information required.
Sample extraction:
Do not send specimens with heparin because they inhibit the polymerase of PCR.
Reference V.:
Reported for each case
Review:
20/09/2010
10781
JOUBERT SYNDROME (CEP290 GENE: SEQUENCING), BLOOD
Method:
PCR-Sequencing.
Mounting:
Delivery period:65
Sample:
10 mL Total blood Tripotassium EDTA (2-8 ºC - Refrigerate)
Request form:
Clinical information required.
Sample extraction:
Do not send specimens with heparin, hemolyzed or lipemic, because they inhibit the polymerase of PCR.
Reference V.:
Reported for each case
11107
JACKSON-WEISS SYNDROME (FGFR2 GENE: SEQUENCING), BLOOD
Method:
PCR-Sequencing.
Mounting:
Delivery period:65
Sample:
10 mL Total blood Tripotassium EDTA (2-8 ºC - Refrigerate)
Request form:
Clinical information required.
Sample extraction:
Do not send specimens with heparin, hemolyzed or lipemic, because they inhibit the polymerase of PCR.
Reference V.:
Reported for each case
11132
JOUBERT SYNDROME (AHI1 GENE: SEQUENCING), BLOOD
Method:
PCR-Sequencing.
Mounting:
Delivery period:65
Sample:
10 mL Total blood Tripotassium EDTA (2-8 ºC - Refrigerate)
Request form:
Clinical information required.
Sample extraction:
Do not send specimens with heparin, hemolyzed or lipemic, because they inhibit the polymerase of PCR.
Reference V.:
Reported for each case
11562
JOUBERT SYNDROME (GENE NPHP1: SEQUENCING), BLOOD
Method:
PCR-Sequencing.
Mounting:
Delivery period:65
Sample:
10 mL Total blood Tripotassium EDTA (12-20 ºC - Ambient Temp.)
Request form:
Clinical information required.
Sample extraction:
Do not send specimens with heparin because they inhibit the polymerase of PCR.
Reference V.:
Reported for each case
Review:
27/10/2012
11563
JOUBERT SYNDROME (NPHP1 GENE: MLPA), BLOOD
Method:
MLPA (Multiplex Ligation-dependent Probe Amplification)
Mounting:
Delivery period:50
Sample:
10 mL Total blood Tripotassium EDTA (12-20 ºC - Ambient Temp.)
Request form:
Clinical information required.
Sample extraction:
Do not send specimens with heparin because they inhibit the polymerase of PCR.
Reference V.:
Reported for each case
Review:
27/10/2012
14112
JAK2 GENE (EXON 12), BLOOD
Method:
PCR-Sequencing.
Mounting:
Delivery period:25
Sample:
3 mL Total blood Tripotassium EDTA (2-8 ºC - Refrigerate)
Request form:
Clinical information required.
Sample extraction:
Do not send specimens with heparin, hemolyzed or lipemic, because they inhibit the polymerase of PCR.
Reference V.:
Reported for each case
Review:
06/06/2014
15662
Jo-1 ANTIBODIES, SERUM
Method:
Multiplex Fluorometric ImmunoAssay
Mounting:
Delivery period:2
Sample:
1 mL Serum (2-8 ºC - Refrigerate)
Alt. 1 mL Plasma Tripotassium EDTA (2-8 ºC - Refrigerate)
Interpretation:
Positive: >= to 1.00 IA
Negative:
< 1.00 IA