Collect

Peripheral Blood (Whole Blood): (5-8mL) in green top sodium heparin tube
Amniotic fluid: 15-30mL in sterile container
CVS: 15-25mg villi in sterile Hanks sol. (available from lab upon request)
Bone Marrow: 2-4mL in green top sodium heparin tube
Tumor/Tissue: Tissue in sterile container with sterile Hanks sol. (available from lab upon request) or sterile saline
FFPE: 4 micron section on positively charged microscope slides if indicated

Specimen Preparation

Label specimen container with patient name, second identifier, date of collection and the contents of the tube

Storage/Transport Temperature

Transport specimens at room temperature as soon as possible to the Cytogenetics Laboratory.  If there is a delay, refrigerate (2-8 °C) specimen.  
Exception: FFPE slides should be shipped and stored at room temperature

Remarks

Specimens should be accompanied by a completed requisition that should include patient information, diagnosis or ICD-10 code, physician signature, test requested (include specific DNA probe) and signed patient consent (Click here for consent form). Signed patient consent is not required for Oncology specimens.

Descriptions of FISH testing that require a consent form:
1. FISH for SRY(Yp11.3)
    FISH for SRY is indicated for individuals with genetalia/karyotype discrepancy, Gonadal Dysgenesis, and Turner syndrome with Y chromosome material.
    Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
    Genetic Counseling is recommended for the interpretation of FISH testing

2.  FISH for ELN/LIMK1/D7S613 (7q11.23)
     FISH for ELN/LIMK1/D7S613 (7q11.23) is used to identify individuals with Williams Syndrome.
     Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

3.  FISH for SNRPN (15q11-13)
     FISH for SNRPN (15q11-13) is used to identify individuals with Prader/Willi Syndrome (PWS) and Angelman Syndrome (AS) caused by 15q11-13 deletion.
      Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

4. FISH for SMS (17p11.2)
    FISH for SMS (17p11.2) is used to identify individuals with Smith-Magenis Syndrome (SMS) and Potocki-Lupski Syndrome (PLS) caused by 17p11.2 copy number changes.
    Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

5.  FISH for LIS1 (17p13.3)
     FISH for LIS1 (17p13.3) is used to identify individuals with Miller-Dieker Syndrome and LIS1 deletion caused lissencephaly.
     Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

6.  FISH for TUPLE1 (22q11.2)
     FISH for TUPLE1 (22q11.2) is used to identify individuals with DiGeorge Syndrome and 22q11.2 Duplication Syndrome.
     Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

7.  Aneuvysion (FISH), "Pre-Natal FISH panel" (DXZ1, DYZ3, D18Z1)/(RB1,D21S259/D21S341/D21S342)
     This is an FDA approved test used to identify gender and detect numerical abnormalities associated with chromosomes 13, 18, 21, X and Y.
      Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

Test Barcode Number

16807

Lab Section

Cytogenetics

Methodology

Fluorescence In-Situ Hybridization (FISH)

Performed

Mon - Fri, day shift. STAT FISH testing is available upon request.

Reported

7-14 days

Performing Laboratory Website (click below)

UR Medicine Labs

Reference Interval

See report

CPT Codes

88271 (quantity will depend on number of probes)
88273 if analyzing 10 - 30 metaphases
88274 if analyzing 25 - 99 interphase cells; OR 88275 if analyzing 100 - 300 interphase cells.
Oncology specimens for FISH analysis may have additional probes and interphase cells added.  Therefore additional CPT codes would apply

LOINC Mapping

FISH - CVS: 55193-7
FISH-AF: 55192-9
FISH-Oncology: 57802-1
FISH-138+ Cells: 57802-1

Order Type (Individual or Group)

G

Group Test Information

Result Test IDReportableResult Test NameResult TypeType (Alpha or Numeric)
INTFHYRESULT, FISHIA
FSCHRYSPECIMEN TYPE, CYTOGENETICS FISHIA
IDCHRYINDICATIONIA
PTYPEYPROBE TYPEIA
DSTATYDISEASE STATUS,CTGIN
CTSCTYPATIENT CONSENT,CTGIN

Reflex Test ID

Result Test ID Reportable Result Test Name Result Type Type (Alpha or Numeric)
CTCST Y PATIENT CONSENT I A
RRFIS Y FISH REVIEW I A

CDATE  only relfexed if CTCST is resulted as NO.
Result Test ID Reportable Result Test Name Result Type Type (Alpha or Numeric)
CDATE  Y CONSENT FORM/CANCEL DATE Y A

 

CPT Codes

88271 (quantity will depend on number of probes)
88273 if analyzing 10 - 30 metaphases
88274 if analyzing 25 - 99 interphase cells; OR 88275 if analyzing 100 - 300 interphase cells.
Oncology specimens for FISH analysis may have additional probes and interphase cells added.  Therefore additional CPT codes would apply

LOINC Mapping

FISH - CVS: 55193-7
FISH-AF: 55192-9
FISH-Oncology: 57802-1
FISH-138+ Cells: 57802-1

Pricing

Refer to Lab Account Manager. email: labservicesoutreach@urmc.rochester.edu
Specimen Requirements

Collect

Peripheral Blood (Whole Blood): (5-8mL) in green top sodium heparin tube
Amniotic fluid: 15-30mL in sterile container
CVS: 15-25mg villi in sterile Hanks sol. (available from lab upon request)
Bone Marrow: 2-4mL in green top sodium heparin tube
Tumor/Tissue: Tissue in sterile container with sterile Hanks sol. (available from lab upon request) or sterile saline
FFPE: 4 micron section on positively charged microscope slides if indicated

Specimen Preparation

Label specimen container with patient name, second identifier, date of collection and the contents of the tube

Storage/Transport Temperature

Transport specimens at room temperature as soon as possible to the Cytogenetics Laboratory.  If there is a delay, refrigerate (2-8 °C) specimen.  
Exception: FFPE slides should be shipped and stored at room temperature

Remarks

Specimens should be accompanied by a completed requisition that should include patient information, diagnosis or ICD-10 code, physician signature, test requested (include specific DNA probe) and signed patient consent (Click here for consent form). Signed patient consent is not required for Oncology specimens.

Descriptions of FISH testing that require a consent form:
1. FISH for SRY(Yp11.3)
    FISH for SRY is indicated for individuals with genetalia/karyotype discrepancy, Gonadal Dysgenesis, and Turner syndrome with Y chromosome material.
    Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
    Genetic Counseling is recommended for the interpretation of FISH testing

2.  FISH for ELN/LIMK1/D7S613 (7q11.23)
     FISH for ELN/LIMK1/D7S613 (7q11.23) is used to identify individuals with Williams Syndrome.
     Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

3.  FISH for SNRPN (15q11-13)
     FISH for SNRPN (15q11-13) is used to identify individuals with Prader/Willi Syndrome (PWS) and Angelman Syndrome (AS) caused by 15q11-13 deletion.
      Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

4. FISH for SMS (17p11.2)
    FISH for SMS (17p11.2) is used to identify individuals with Smith-Magenis Syndrome (SMS) and Potocki-Lupski Syndrome (PLS) caused by 17p11.2 copy number changes.
    Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

5.  FISH for LIS1 (17p13.3)
     FISH for LIS1 (17p13.3) is used to identify individuals with Miller-Dieker Syndrome and LIS1 deletion caused lissencephaly.
     Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

6.  FISH for TUPLE1 (22q11.2)
     FISH for TUPLE1 (22q11.2) is used to identify individuals with DiGeorge Syndrome and 22q11.2 Duplication Syndrome.
     Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

7.  Aneuvysion (FISH), "Pre-Natal FISH panel" (DXZ1, DYZ3, D18Z1)/(RB1,D21S259/D21S341/D21S342)
     This is an FDA approved test used to identify gender and detect numerical abnormalities associated with chromosomes 13, 18, 21, X and Y.
      Fluorescence in situ hybridization (FISH) provides clinicians with a way to visualize and map the genetic material in an individual's cells including specific genes or portions of genes.
     Genetic Counseling is recommended for the interpretation of FISH testing.

Test Barcode Number

16807
Testing

Lab Section

Cytogenetics

Methodology

Fluorescence In-Situ Hybridization (FISH)

Performed

Mon - Fri, day shift. STAT FISH testing is available upon request.

Reported

7-14 days

Performing Laboratory Website (click below)

UR Medicine Labs

Result Interpretation

Reference Interval

See report
Coding

CPT Codes

88271 (quantity will depend on number of probes)
88273 if analyzing 10 - 30 metaphases
88274 if analyzing 25 - 99 interphase cells; OR 88275 if analyzing 100 - 300 interphase cells.
Oncology specimens for FISH analysis may have additional probes and interphase cells added.  Therefore additional CPT codes would apply

LOINC Mapping

FISH - CVS: 55193-7
FISH-AF: 55192-9
FISH-Oncology: 57802-1
FISH-138+ Cells: 57802-1
URM Labs Internal
Test Build

Order Type (Individual or Group)

G

Group Test Information

Result Test IDReportableResult Test NameResult TypeType (Alpha or Numeric)
INTFHYRESULT, FISHIA
FSCHRYSPECIMEN TYPE, CYTOGENETICS FISHIA
IDCHRYINDICATIONIA
PTYPEYPROBE TYPEIA
DSTATYDISEASE STATUS,CTGIN
CTSCTYPATIENT CONSENT,CTGIN

Reflex Test ID

Result Test ID Reportable Result Test Name Result Type Type (Alpha or Numeric)
CTCST Y PATIENT CONSENT I A
RRFIS Y FISH REVIEW I A

CDATE  only relfexed if CTCST is resulted as NO.
Result Test ID Reportable Result Test Name Result Type Type (Alpha or Numeric)
CDATE  Y CONSENT FORM/CANCEL DATE Y A

 

CPT Codes

88271 (quantity will depend on number of probes)
88273 if analyzing 10 - 30 metaphases
88274 if analyzing 25 - 99 interphase cells; OR 88275 if analyzing 100 - 300 interphase cells.
Oncology specimens for FISH analysis may have additional probes and interphase cells added.  Therefore additional CPT codes would apply

LOINC Mapping

FISH - CVS: 55193-7
FISH-AF: 55192-9
FISH-Oncology: 57802-1
FISH-138+ Cells: 57802-1

Pricing

Refer to Lab Account Manager. email: labservicesoutreach@urmc.rochester.edu

Important Information

Lab Section
Cytogenetics

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