Available Stat

No

Performing Lab

Medical Genomics - Cytogenetics

Performed

Set up daily, Monday-Friday

Methodology

Fluorescent in-situ hybridization

Reported

7-14 days

Additional Information

A normal result indicates that there was no evidence of a deletion present. However, this does not exclude the possibility that an undetected mutation exists.

Non-Oncology probes:
Submicroscopic deletions in the regions listed below, associated with the specified syndromes, are detected by the examination of 10 metaphase cells using the appropriate probe set with an internal control. A normal result indicates there was no evidence of deletions or other abnormal hybridization
patterns.
Syndrome Test Code Locus/Gene
Wolf Hirshhorn WHS 4p16
Cri du Chat CDCR 5p15
Williams WMS 7q11.23
Retinoblastoma RB1 13q14
Prader Willi PW SNRPN/CEP15/D15S10
Smith Magenis SMS 17p11.2
Miller Dieker MDIE 17p13.3
DiGeorge/VCF/distal 22q TUPLE1/ARSA DGS 22q11.2/22q13
Kallman syndrome KAL Xp22.3
Steroid sulfatase deficiency STSD Xp22.3
SRY Region SRY Yp11.3
Angelman AGM D15S10/CEP15/PML
XY metaphase FISH CYXY CEPX/DYZ1
14/22 FISH MAR FISH for marker chromosome


**The DNA methylation test "PWA" must be done prior the FISH test for microdeletion detection for Prader Willi/Angelman syndrome.

See Molecular Diagnostics-test Prader Willi/Angelman for sample collection information.

Oncology probes:
Name Test code
BCR/ABL TR922
PML/RARA TR1517
Trisomy 8 TRIS8
Monosomy 7/Deletion 7q M7D7Q
Donor/Sex Specific (XXXY) XXXY
Monosomy 5/Deletion 5q M5D5Q
MLL 11q23 MLLQ23
Deletion 20q DEL20Q
Duplication 1Q DUP1Q
Deletion 13Q DEL13Q
Translocation 4/14 TR414
Translocation 11/14 TR1114
Translocation 14/16 TR1416
Deletion 17p DEL17P
Deletion 11Q DEL11Q
Trisomy 12 TRIS12
Inv/Trans/del 16q INV16Q
Translocation 8:21 TR821
Translocation 8/14 TR814
Translocation 14/18 TR1418
14q23 breakapart IGHQ23


Each FISH test is developed and its performance characteristics determined by
the UCSF Cytogenetics Laboratory as required by CLIA '88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. All FISH probes undergo internal validation and quality control testing at UCSF Cytogenetics Lab prior to use.

Reflex Testing

If an abnormality is detected the Director will determine the appropriate additional studies to be performed to characterize the abnormality.

Additional testing may be omitted if specifically requested when the sample is submitted for cytogenetic analysis.

Synonyms

  • Cytogenetic analysis
  • microdeletion
  • chromosome analysis
  • inherited disorders
  • oncology FISH
  • non-oncology FISH
  • Karyotype
  • Karyotyping
  • Wolf Hirshhorn
  • 4p16
  • Cri du Chat
  • 5p15
  • Williams
  • 7q11.23
  • Retinoblastoma
  • 13q14
  • Prader Willi
  • Angelman
  • SNRPN
  • 15q11-q13
  • Smith
  • Magenis
  • 17p11.2
  • Miller Dieker
  • 17p13.3
  • DiGeorge
  • distal 22q
  • TUPLE1
  • ARSA
  • 22q11.2/22q13
  • Kallman syndrome
  • Xp22.3
  • Steroid sulfatase deficiency
  • SRY Region
  • Yp11.3
  • BCR/ABL
  • PML/RARA
  • Trisomy 8
  • Monosomy 7/Deletion 7q
  • Donor/Sex Specific (XXXY)
  • Monosomy 5/Deletion 5q
  • MLL 11q23
  • Deletion 20q
  • Duplication 1Q
  • Deletion 13Q
  • Translocation 4/14
  • Translocation 11/14
  • Translocation 14/16
  • Deletion 17p
  • Deletion 11Q
  • Trisomy 12
  • Inv/Trans/del 16q
  • Translocation 8:21
  • Translocation 8/14
  • Translocation 14/18
  • 14q23 breakapart

Supplemental Test Request Form Required

Yes

Sample Type

Heparinized whole blood, Amniotic fluid, CVS, Unfixed tissue

Collect

Blood: Dark green top
Amniotic fluid: Sterile screw top container
CVS or POC: 15 mL centrifuge tube with transport media (RPMI, FBS, L-Glutamine, Sodium Heparin and PenStrep). Available from Cytogenetics.

Amount to Collect

See preferred volume

Preferred Volume

Whole blood, child or adult: 10 mL
Whole blood, infant: 3 mL
Amniotic Fluid: 10 mL
CVS: 10 mg
POC: 10 mg

Minimum Volume

Whole blood, child or adult: 3 mL
Whole blood, infant: 1 mL
Amniotic Fluid: 5 mL
CVS: 5 mg
POC: 5 mg

Remarks

Complete and submit a "UCSF Reproductive Genetics Lab Results" or a "UCSF Cytogenetic Requisition" form and send with the samples.

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason.

Stability (from collection to initiation)

48 hours

Unacceptable Conditions

Insufficient volume; unlabeled tubes; clotted samples; broken, leaking or contaminated tubes; frozen samples.

Test Code

CYFMB

Test Group

Chromosome Analysis

Performing Lab

Medical Genomics - Cytogenetics

Specimen Preparation

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason. Send all tubes and completed paperwork asap to the Cytogenetics laboratory at China Basin.

Preferred Volume

Whole blood, child or adult: 10 mL
Whole blood, infant: 3 mL
Amniotic Fluid: 10 mL
CVS: 10 mg
POC: 10 mg

Minimum Volume

Whole blood, child or adult: 3 mL
Whole blood, infant: 1 mL
Amniotic Fluid: 5 mL
CVS: 5 mg
POC: 5 mg

Unacceptable Conditions

Insufficient volume; unlabeled tubes; clotted samples; broken, leaking or contaminated tubes; frozen samples.

Stability (from collection to initiation)

48 hours

Reference Interval

Normal. See Additional Information

Additional Information

A normal result indicates that there was no evidence of a deletion present. However, this does not exclude the possibility that an undetected mutation exists.

Non-Oncology probes:
Submicroscopic deletions in the regions listed below, associated with the specified syndromes, are detected by the examination of 10 metaphase cells using the appropriate probe set with an internal control. A normal result indicates there was no evidence of deletions or other abnormal hybridization
patterns.
Syndrome Test Code Locus/Gene
Wolf Hirshhorn WHS 4p16
Cri du Chat CDCR 5p15
Williams WMS 7q11.23
Retinoblastoma RB1 13q14
Prader Willi PW SNRPN/CEP15/D15S10
Smith Magenis SMS 17p11.2
Miller Dieker MDIE 17p13.3
DiGeorge/VCF/distal 22q TUPLE1/ARSA DGS 22q11.2/22q13
Kallman syndrome KAL Xp22.3
Steroid sulfatase deficiency STSD Xp22.3
SRY Region SRY Yp11.3
Angelman AGM D15S10/CEP15/PML
XY metaphase FISH CYXY CEPX/DYZ1
14/22 FISH MAR FISH for marker chromosome


**The DNA methylation test "PWA" must be done prior the FISH test for microdeletion detection for Prader Willi/Angelman syndrome.

See Molecular Diagnostics-test Prader Willi/Angelman for sample collection information.

Oncology probes:
Name Test code
BCR/ABL TR922
PML/RARA TR1517
Trisomy 8 TRIS8
Monosomy 7/Deletion 7q M7D7Q
Donor/Sex Specific (XXXY) XXXY
Monosomy 5/Deletion 5q M5D5Q
MLL 11q23 MLLQ23
Deletion 20q DEL20Q
Duplication 1Q DUP1Q
Deletion 13Q DEL13Q
Translocation 4/14 TR414
Translocation 11/14 TR1114
Translocation 14/16 TR1416
Deletion 17p DEL17P
Deletion 11Q DEL11Q
Trisomy 12 TRIS12
Inv/Trans/del 16q INV16Q
Translocation 8:21 TR821
Translocation 8/14 TR814
Translocation 14/18 TR1418
14q23 breakapart IGHQ23


Each FISH test is developed and its performance characteristics determined by
the UCSF Cytogenetics Laboratory as required by CLIA '88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. All FISH probes undergo internal validation and quality control testing at UCSF Cytogenetics Lab prior to use.

CPT Codes

88273, 88271

LDT or Modified FDA

Yes

LOINC Codes

48818-9

Available Stat

No

Test Code

CYFMB

Test Group

Chromosome Analysis

Performing Lab

Medical Genomics - Cytogenetics

Performed

Set up daily, Monday-Friday

Methodology

Fluorescent in-situ hybridization

Remarks

Complete and submit a "UCSF Reproductive Genetics Lab Results" or a "UCSF Cytogenetic Requisition" form and send with the samples.

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason.

Collect

Blood: Dark green top
Amniotic fluid: Sterile screw top container
CVS or POC: 15 mL centrifuge tube with transport media (RPMI, FBS, L-Glutamine, Sodium Heparin and PenStrep). Available from Cytogenetics.

Amount to Collect

See preferred volume

Sample Type

Heparinized whole blood, Amniotic fluid, CVS, Unfixed tissue

Preferred Volume

Whole blood, child or adult: 10 mL
Whole blood, infant: 3 mL
Amniotic Fluid: 10 mL
CVS: 10 mg
POC: 10 mg

Minimum Volume

Whole blood, child or adult: 3 mL
Whole blood, infant: 1 mL
Amniotic Fluid: 5 mL
CVS: 5 mg
POC: 5 mg

Unacceptable Conditions

Insufficient volume; unlabeled tubes; clotted samples; broken, leaking or contaminated tubes; frozen samples.

Specimen Preparation

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason. Send all tubes and completed paperwork asap to the Cytogenetics laboratory at China Basin.

Reference Interval

Normal. See Additional Information

Synonyms

  • Cytogenetic analysis
  • microdeletion
  • chromosome analysis
  • inherited disorders
  • oncology FISH
  • non-oncology FISH
  • Karyotype
  • Karyotyping
  • Wolf Hirshhorn
  • 4p16
  • Cri du Chat
  • 5p15
  • Williams
  • 7q11.23
  • Retinoblastoma
  • 13q14
  • Prader Willi
  • Angelman
  • SNRPN
  • 15q11-q13
  • Smith
  • Magenis
  • 17p11.2
  • Miller Dieker
  • 17p13.3
  • DiGeorge
  • distal 22q
  • TUPLE1
  • ARSA
  • 22q11.2/22q13
  • Kallman syndrome
  • Xp22.3
  • Steroid sulfatase deficiency
  • SRY Region
  • Yp11.3
  • BCR/ABL
  • PML/RARA
  • Trisomy 8
  • Monosomy 7/Deletion 7q
  • Donor/Sex Specific (XXXY)
  • Monosomy 5/Deletion 5q
  • MLL 11q23
  • Deletion 20q
  • Duplication 1Q
  • Deletion 13Q
  • Translocation 4/14
  • Translocation 11/14
  • Translocation 14/16
  • Deletion 17p
  • Deletion 11Q
  • Trisomy 12
  • Inv/Trans/del 16q
  • Translocation 8:21
  • Translocation 8/14
  • Translocation 14/18
  • 14q23 breakapart

Stability (from collection to initiation)

48 hours

Reported

7-14 days

Reflex Testing

If an abnormality is detected the Director will determine the appropriate additional studies to be performed to characterize the abnormality.

Additional testing may be omitted if specifically requested when the sample is submitted for cytogenetic analysis.

Additional Information

A normal result indicates that there was no evidence of a deletion present. However, this does not exclude the possibility that an undetected mutation exists.

Non-Oncology probes:
Submicroscopic deletions in the regions listed below, associated with the specified syndromes, are detected by the examination of 10 metaphase cells using the appropriate probe set with an internal control. A normal result indicates there was no evidence of deletions or other abnormal hybridization
patterns.
Syndrome Test Code Locus/Gene
Wolf Hirshhorn WHS 4p16
Cri du Chat CDCR 5p15
Williams WMS 7q11.23
Retinoblastoma RB1 13q14
Prader Willi PW SNRPN/CEP15/D15S10
Smith Magenis SMS 17p11.2
Miller Dieker MDIE 17p13.3
DiGeorge/VCF/distal 22q TUPLE1/ARSA DGS 22q11.2/22q13
Kallman syndrome KAL Xp22.3
Steroid sulfatase deficiency STSD Xp22.3
SRY Region SRY Yp11.3
Angelman AGM D15S10/CEP15/PML
XY metaphase FISH CYXY CEPX/DYZ1
14/22 FISH MAR FISH for marker chromosome


**The DNA methylation test "PWA" must be done prior the FISH test for microdeletion detection for Prader Willi/Angelman syndrome.

See Molecular Diagnostics-test Prader Willi/Angelman for sample collection information.

Oncology probes:
Name Test code
BCR/ABL TR922
PML/RARA TR1517
Trisomy 8 TRIS8
Monosomy 7/Deletion 7q M7D7Q
Donor/Sex Specific (XXXY) XXXY
Monosomy 5/Deletion 5q M5D5Q
MLL 11q23 MLLQ23
Deletion 20q DEL20Q
Duplication 1Q DUP1Q
Deletion 13Q DEL13Q
Translocation 4/14 TR414
Translocation 11/14 TR1114
Translocation 14/16 TR1416
Deletion 17p DEL17P
Deletion 11Q DEL11Q
Trisomy 12 TRIS12
Inv/Trans/del 16q INV16Q
Translocation 8:21 TR821
Translocation 8/14 TR814
Translocation 14/18 TR1418
14q23 breakapart IGHQ23


Each FISH test is developed and its performance characteristics determined by
the UCSF Cytogenetics Laboratory as required by CLIA '88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. All FISH probes undergo internal validation and quality control testing at UCSF Cytogenetics Lab prior to use.

CPT Codes

88273, 88271

LDT or Modified FDA

Yes

LOINC Codes

48818-9

Supplemental Test Request Form Required

Yes
Ordering

Available Stat

No

Performing Lab

Medical Genomics - Cytogenetics

Performed

Set up daily, Monday-Friday

Methodology

Fluorescent in-situ hybridization

Reported

7-14 days

Additional Information

A normal result indicates that there was no evidence of a deletion present. However, this does not exclude the possibility that an undetected mutation exists.

Non-Oncology probes:
Submicroscopic deletions in the regions listed below, associated with the specified syndromes, are detected by the examination of 10 metaphase cells using the appropriate probe set with an internal control. A normal result indicates there was no evidence of deletions or other abnormal hybridization
patterns.
Syndrome Test Code Locus/Gene
Wolf Hirshhorn WHS 4p16
Cri du Chat CDCR 5p15
Williams WMS 7q11.23
Retinoblastoma RB1 13q14
Prader Willi PW SNRPN/CEP15/D15S10
Smith Magenis SMS 17p11.2
Miller Dieker MDIE 17p13.3
DiGeorge/VCF/distal 22q TUPLE1/ARSA DGS 22q11.2/22q13
Kallman syndrome KAL Xp22.3
Steroid sulfatase deficiency STSD Xp22.3
SRY Region SRY Yp11.3
Angelman AGM D15S10/CEP15/PML
XY metaphase FISH CYXY CEPX/DYZ1
14/22 FISH MAR FISH for marker chromosome


**The DNA methylation test "PWA" must be done prior the FISH test for microdeletion detection for Prader Willi/Angelman syndrome.

See Molecular Diagnostics-test Prader Willi/Angelman for sample collection information.

Oncology probes:
Name Test code
BCR/ABL TR922
PML/RARA TR1517
Trisomy 8 TRIS8
Monosomy 7/Deletion 7q M7D7Q
Donor/Sex Specific (XXXY) XXXY
Monosomy 5/Deletion 5q M5D5Q
MLL 11q23 MLLQ23
Deletion 20q DEL20Q
Duplication 1Q DUP1Q
Deletion 13Q DEL13Q
Translocation 4/14 TR414
Translocation 11/14 TR1114
Translocation 14/16 TR1416
Deletion 17p DEL17P
Deletion 11Q DEL11Q
Trisomy 12 TRIS12
Inv/Trans/del 16q INV16Q
Translocation 8:21 TR821
Translocation 8/14 TR814
Translocation 14/18 TR1418
14q23 breakapart IGHQ23


Each FISH test is developed and its performance characteristics determined by
the UCSF Cytogenetics Laboratory as required by CLIA '88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. All FISH probes undergo internal validation and quality control testing at UCSF Cytogenetics Lab prior to use.

Reflex Testing

If an abnormality is detected the Director will determine the appropriate additional studies to be performed to characterize the abnormality.

Additional testing may be omitted if specifically requested when the sample is submitted for cytogenetic analysis.

Synonyms

  • Cytogenetic analysis
  • microdeletion
  • chromosome analysis
  • inherited disorders
  • oncology FISH
  • non-oncology FISH
  • Karyotype
  • Karyotyping
  • Wolf Hirshhorn
  • 4p16
  • Cri du Chat
  • 5p15
  • Williams
  • 7q11.23
  • Retinoblastoma
  • 13q14
  • Prader Willi
  • Angelman
  • SNRPN
  • 15q11-q13
  • Smith
  • Magenis
  • 17p11.2
  • Miller Dieker
  • 17p13.3
  • DiGeorge
  • distal 22q
  • TUPLE1
  • ARSA
  • 22q11.2/22q13
  • Kallman syndrome
  • Xp22.3
  • Steroid sulfatase deficiency
  • SRY Region
  • Yp11.3
  • BCR/ABL
  • PML/RARA
  • Trisomy 8
  • Monosomy 7/Deletion 7q
  • Donor/Sex Specific (XXXY)
  • Monosomy 5/Deletion 5q
  • MLL 11q23
  • Deletion 20q
  • Duplication 1Q
  • Deletion 13Q
  • Translocation 4/14
  • Translocation 11/14
  • Translocation 14/16
  • Deletion 17p
  • Deletion 11Q
  • Trisomy 12
  • Inv/Trans/del 16q
  • Translocation 8:21
  • Translocation 8/14
  • Translocation 14/18
  • 14q23 breakapart

Supplemental Test Request Form Required

Yes
Collection

Sample Type

Heparinized whole blood, Amniotic fluid, CVS, Unfixed tissue

Collect

Blood: Dark green top
Amniotic fluid: Sterile screw top container
CVS or POC: 15 mL centrifuge tube with transport media (RPMI, FBS, L-Glutamine, Sodium Heparin and PenStrep). Available from Cytogenetics.

Amount to Collect

See preferred volume

Preferred Volume

Whole blood, child or adult: 10 mL
Whole blood, infant: 3 mL
Amniotic Fluid: 10 mL
CVS: 10 mg
POC: 10 mg

Minimum Volume

Whole blood, child or adult: 3 mL
Whole blood, infant: 1 mL
Amniotic Fluid: 5 mL
CVS: 5 mg
POC: 5 mg

Remarks

Complete and submit a "UCSF Reproductive Genetics Lab Results" or a "UCSF Cytogenetic Requisition" form and send with the samples.

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason.

Stability (from collection to initiation)

48 hours

Unacceptable Conditions

Insufficient volume; unlabeled tubes; clotted samples; broken, leaking or contaminated tubes; frozen samples.
Processing

Test Code

CYFMB

Test Group

Chromosome Analysis

Performing Lab

Medical Genomics - Cytogenetics

Specimen Preparation

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason. Send all tubes and completed paperwork asap to the Cytogenetics laboratory at China Basin.

Preferred Volume

Whole blood, child or adult: 10 mL
Whole blood, infant: 3 mL
Amniotic Fluid: 10 mL
CVS: 10 mg
POC: 10 mg

Minimum Volume

Whole blood, child or adult: 3 mL
Whole blood, infant: 1 mL
Amniotic Fluid: 5 mL
CVS: 5 mg
POC: 5 mg

Unacceptable Conditions

Insufficient volume; unlabeled tubes; clotted samples; broken, leaking or contaminated tubes; frozen samples.

Stability (from collection to initiation)

48 hours
Result Interpretation

Reference Interval

Normal. See Additional Information

Additional Information

A normal result indicates that there was no evidence of a deletion present. However, this does not exclude the possibility that an undetected mutation exists.

Non-Oncology probes:
Submicroscopic deletions in the regions listed below, associated with the specified syndromes, are detected by the examination of 10 metaphase cells using the appropriate probe set with an internal control. A normal result indicates there was no evidence of deletions or other abnormal hybridization
patterns.
Syndrome Test Code Locus/Gene
Wolf Hirshhorn WHS 4p16
Cri du Chat CDCR 5p15
Williams WMS 7q11.23
Retinoblastoma RB1 13q14
Prader Willi PW SNRPN/CEP15/D15S10
Smith Magenis SMS 17p11.2
Miller Dieker MDIE 17p13.3
DiGeorge/VCF/distal 22q TUPLE1/ARSA DGS 22q11.2/22q13
Kallman syndrome KAL Xp22.3
Steroid sulfatase deficiency STSD Xp22.3
SRY Region SRY Yp11.3
Angelman AGM D15S10/CEP15/PML
XY metaphase FISH CYXY CEPX/DYZ1
14/22 FISH MAR FISH for marker chromosome


**The DNA methylation test "PWA" must be done prior the FISH test for microdeletion detection for Prader Willi/Angelman syndrome.

See Molecular Diagnostics-test Prader Willi/Angelman for sample collection information.

Oncology probes:
Name Test code
BCR/ABL TR922
PML/RARA TR1517
Trisomy 8 TRIS8
Monosomy 7/Deletion 7q M7D7Q
Donor/Sex Specific (XXXY) XXXY
Monosomy 5/Deletion 5q M5D5Q
MLL 11q23 MLLQ23
Deletion 20q DEL20Q
Duplication 1Q DUP1Q
Deletion 13Q DEL13Q
Translocation 4/14 TR414
Translocation 11/14 TR1114
Translocation 14/16 TR1416
Deletion 17p DEL17P
Deletion 11Q DEL11Q
Trisomy 12 TRIS12
Inv/Trans/del 16q INV16Q
Translocation 8:21 TR821
Translocation 8/14 TR814
Translocation 14/18 TR1418
14q23 breakapart IGHQ23


Each FISH test is developed and its performance characteristics determined by
the UCSF Cytogenetics Laboratory as required by CLIA '88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. All FISH probes undergo internal validation and quality control testing at UCSF Cytogenetics Lab prior to use.
Administrative

CPT Codes

88273, 88271

LDT or Modified FDA

Yes

LOINC Codes

48818-9
Complete View

Available Stat

No

Test Code

CYFMB

Test Group

Chromosome Analysis

Performing Lab

Medical Genomics - Cytogenetics

Performed

Set up daily, Monday-Friday

Methodology

Fluorescent in-situ hybridization

Remarks

Complete and submit a "UCSF Reproductive Genetics Lab Results" or a "UCSF Cytogenetic Requisition" form and send with the samples.

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason.

Collect

Blood: Dark green top
Amniotic fluid: Sterile screw top container
CVS or POC: 15 mL centrifuge tube with transport media (RPMI, FBS, L-Glutamine, Sodium Heparin and PenStrep). Available from Cytogenetics.

Amount to Collect

See preferred volume

Sample Type

Heparinized whole blood, Amniotic fluid, CVS, Unfixed tissue

Preferred Volume

Whole blood, child or adult: 10 mL
Whole blood, infant: 3 mL
Amniotic Fluid: 10 mL
CVS: 10 mg
POC: 10 mg

Minimum Volume

Whole blood, child or adult: 3 mL
Whole blood, infant: 1 mL
Amniotic Fluid: 5 mL
CVS: 5 mg
POC: 5 mg

Unacceptable Conditions

Insufficient volume; unlabeled tubes; clotted samples; broken, leaking or contaminated tubes; frozen samples.

Specimen Preparation

Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason. Send all tubes and completed paperwork asap to the Cytogenetics laboratory at China Basin.

Reference Interval

Normal. See Additional Information

Synonyms

  • Cytogenetic analysis
  • microdeletion
  • chromosome analysis
  • inherited disorders
  • oncology FISH
  • non-oncology FISH
  • Karyotype
  • Karyotyping
  • Wolf Hirshhorn
  • 4p16
  • Cri du Chat
  • 5p15
  • Williams
  • 7q11.23
  • Retinoblastoma
  • 13q14
  • Prader Willi
  • Angelman
  • SNRPN
  • 15q11-q13
  • Smith
  • Magenis
  • 17p11.2
  • Miller Dieker
  • 17p13.3
  • DiGeorge
  • distal 22q
  • TUPLE1
  • ARSA
  • 22q11.2/22q13
  • Kallman syndrome
  • Xp22.3
  • Steroid sulfatase deficiency
  • SRY Region
  • Yp11.3
  • BCR/ABL
  • PML/RARA
  • Trisomy 8
  • Monosomy 7/Deletion 7q
  • Donor/Sex Specific (XXXY)
  • Monosomy 5/Deletion 5q
  • MLL 11q23
  • Deletion 20q
  • Duplication 1Q
  • Deletion 13Q
  • Translocation 4/14
  • Translocation 11/14
  • Translocation 14/16
  • Deletion 17p
  • Deletion 11Q
  • Trisomy 12
  • Inv/Trans/del 16q
  • Translocation 8:21
  • Translocation 8/14
  • Translocation 14/18
  • 14q23 breakapart

Stability (from collection to initiation)

48 hours

Reported

7-14 days

Reflex Testing

If an abnormality is detected the Director will determine the appropriate additional studies to be performed to characterize the abnormality.

Additional testing may be omitted if specifically requested when the sample is submitted for cytogenetic analysis.

Additional Information

A normal result indicates that there was no evidence of a deletion present. However, this does not exclude the possibility that an undetected mutation exists.

Non-Oncology probes:
Submicroscopic deletions in the regions listed below, associated with the specified syndromes, are detected by the examination of 10 metaphase cells using the appropriate probe set with an internal control. A normal result indicates there was no evidence of deletions or other abnormal hybridization
patterns.
Syndrome Test Code Locus/Gene
Wolf Hirshhorn WHS 4p16
Cri du Chat CDCR 5p15
Williams WMS 7q11.23
Retinoblastoma RB1 13q14
Prader Willi PW SNRPN/CEP15/D15S10
Smith Magenis SMS 17p11.2
Miller Dieker MDIE 17p13.3
DiGeorge/VCF/distal 22q TUPLE1/ARSA DGS 22q11.2/22q13
Kallman syndrome KAL Xp22.3
Steroid sulfatase deficiency STSD Xp22.3
SRY Region SRY Yp11.3
Angelman AGM D15S10/CEP15/PML
XY metaphase FISH CYXY CEPX/DYZ1
14/22 FISH MAR FISH for marker chromosome


**The DNA methylation test "PWA" must be done prior the FISH test for microdeletion detection for Prader Willi/Angelman syndrome.

See Molecular Diagnostics-test Prader Willi/Angelman for sample collection information.

Oncology probes:
Name Test code
BCR/ABL TR922
PML/RARA TR1517
Trisomy 8 TRIS8
Monosomy 7/Deletion 7q M7D7Q
Donor/Sex Specific (XXXY) XXXY
Monosomy 5/Deletion 5q M5D5Q
MLL 11q23 MLLQ23
Deletion 20q DEL20Q
Duplication 1Q DUP1Q
Deletion 13Q DEL13Q
Translocation 4/14 TR414
Translocation 11/14 TR1114
Translocation 14/16 TR1416
Deletion 17p DEL17P
Deletion 11Q DEL11Q
Trisomy 12 TRIS12
Inv/Trans/del 16q INV16Q
Translocation 8:21 TR821
Translocation 8/14 TR814
Translocation 14/18 TR1418
14q23 breakapart IGHQ23


Each FISH test is developed and its performance characteristics determined by
the UCSF Cytogenetics Laboratory as required by CLIA '88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. All FISH probes undergo internal validation and quality control testing at UCSF Cytogenetics Lab prior to use.

CPT Codes

88273, 88271

LDT or Modified FDA

Yes

LOINC Codes

48818-9

Supplemental Test Request Form Required

Yes

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