An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Amyotrophic lateral sclerosis (ALS) and fronototemporal dementia (FTD) are neurodegenerative disorders characterized by progressive paralysis and cognitive decline, respectively. Although most of ALS and FTD cases are sporadic and idiopathic, approximately 5 - 10% of affected individuals follow a Mendelian pattern of an autosomal dominant inheritance. A hexanucleotide repeat (GGGGCC) located in the promoter region of the C9orf72 gene is strongly associated with familial cases of ALS and/or FTD and thus constitutes the basis of the present molecular diagnostic assay. Pathologic expansions (>30 repeats) can be used for the presymptomatic or symptomatic diagnosis of these disorders. Other mutations that casuse ALS and/or FTD occur in the superoxide dismutase (SOD), RNA binding protein FUS (Fused in Sarcoma) and the transcriptional repressor TDP-43 genes. None of these mutations are covered by this assay.
The C9orf72 hexanucleotide repeat in negative individuals consists of up to 30 repeats. In most affected individuals, the repeat was shown to expand to 250-1600 repeats or more. The pathogenic expansions was found to be non-penetrant in carriers who were younger than 35 years of age, increasing to 50% penetrance by 58 years and to almost full penetrance by 80 years. There is also evidence of genetic anticipation in families segregating the pathogenic repeat showing an earlier age of onset in subsequent generations.
This test consists of two PCR assays that will detect first, the repeat size on alleles within the negative range of 1-30 repeats and second, the presence or absence of a positive expanded repeat. Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Evidence of genetic counseling should be provided for any presymptomatic testing.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
Reflex Testing
Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed.
Collect
Lavender top
Amount to Collect
5 mL blood
Preferred Volume
Peripheral blood in EDTA: 5 mL
Amniotic fluid: 20 mL
CVS: 20 mg
Cultured cells: T25 flask x2
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed
Minimum Volume
Peripheral blood in EDTA: 2 mL
Amniotic fluid: 10 mL
CVS: 10 mg
Cultured cells: T25 flask x1
Remarks
Do not collect sample in heparin. Avoid hemolysis. Keep sample refrigerated for overnight or longer storage. Do not freeze.
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week.
Unacceptable Conditions
Heparinized samples. Low confluence cell cultures. Insufficient amount of amniotic fluid or chorionic villi
Test Code
ALSC9
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge or freeze. Ship at room temp or 4C. Refrigerate samples for storage.
Preferred Volume
Peripheral blood in EDTA: 5 mL
Amniotic fluid: 20 mL
CVS: 20 mg
Cultured cells: T25 flask x2
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed
Minimum Volume
Peripheral blood in EDTA: 2 mL
Amniotic fluid: 10 mL
CVS: 10 mg
Cultured cells: T25 flask x1
Unacceptable Conditions
Heparinized samples. Low confluence cell cultures. Insufficient amount of amniotic fluid or chorionic villi
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week.
Reference Interval
Negative for the hexanucleotide repeat expansion (1-30 repeats)
Additional Information
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Amyotrophic lateral sclerosis (ALS) and fronototemporal dementia (FTD) are neurodegenerative disorders characterized by progressive paralysis and cognitive decline, respectively. Although most of ALS and FTD cases are sporadic and idiopathic, approximately 5 - 10% of affected individuals follow a Mendelian pattern of an autosomal dominant inheritance. A hexanucleotide repeat (GGGGCC) located in the promoter region of the C9orf72 gene is strongly associated with familial cases of ALS and/or FTD and thus constitutes the basis of the present molecular diagnostic assay. Pathologic expansions (>30 repeats) can be used for the presymptomatic or symptomatic diagnosis of these disorders. Other mutations that casuse ALS and/or FTD occur in the superoxide dismutase (SOD), RNA binding protein FUS (Fused in Sarcoma) and the transcriptional repressor TDP-43 genes. None of these mutations are covered by this assay.
The C9orf72 hexanucleotide repeat in negative individuals consists of up to 30 repeats. In most affected individuals, the repeat was shown to expand to 250-1600 repeats or more. The pathogenic expansions was found to be non-penetrant in carriers who were younger than 35 years of age, increasing to 50% penetrance by 58 years and to almost full penetrance by 80 years. There is also evidence of genetic anticipation in families segregating the pathogenic repeat showing an earlier age of onset in subsequent generations.
This test consists of two PCR assays that will detect first, the repeat size on alleles within the negative range of 1-30 repeats and second, the presence or absence of a positive expanded repeat. Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Evidence of genetic counseling should be provided for any presymptomatic testing.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
CPT Codes
81479
LDT or Modified FDA
Yes
Available Stat
No
Test Code
ALSC9
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run once per month
Methodology
PCR and Southern blot
Remarks
Do not collect sample in heparin. Avoid hemolysis. Keep sample refrigerated for overnight or longer storage. Do not freeze.
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed.
Preferred Volume
Peripheral blood in EDTA: 5 mL
Amniotic fluid: 20 mL
CVS: 20 mg
Cultured cells: T25 flask x2
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed
Minimum Volume
Peripheral blood in EDTA: 2 mL
Amniotic fluid: 10 mL
CVS: 10 mg
Cultured cells: T25 flask x1
Unacceptable Conditions
Heparinized samples. Low confluence cell cultures. Insufficient amount of amniotic fluid or chorionic villi
Specimen Preparation
Do not centrifuge or freeze. Ship at room temp or 4C. Refrigerate samples for storage.
Reference Interval
Negative for the hexanucleotide repeat expansion (1-30 repeats)
Synonyms
FTD/ALS Hexanucleotide Repeat Expansion
Frontotemporal Dimentia
Amyotropic lateral Sclerosis
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week.
Reported
4-6 weeks
Reflex Testing
Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Additional Information
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Amyotrophic lateral sclerosis (ALS) and fronototemporal dementia (FTD) are neurodegenerative disorders characterized by progressive paralysis and cognitive decline, respectively. Although most of ALS and FTD cases are sporadic and idiopathic, approximately 5 - 10% of affected individuals follow a Mendelian pattern of an autosomal dominant inheritance. A hexanucleotide repeat (GGGGCC) located in the promoter region of the C9orf72 gene is strongly associated with familial cases of ALS and/or FTD and thus constitutes the basis of the present molecular diagnostic assay. Pathologic expansions (>30 repeats) can be used for the presymptomatic or symptomatic diagnosis of these disorders. Other mutations that casuse ALS and/or FTD occur in the superoxide dismutase (SOD), RNA binding protein FUS (Fused in Sarcoma) and the transcriptional repressor TDP-43 genes. None of these mutations are covered by this assay.
The C9orf72 hexanucleotide repeat in negative individuals consists of up to 30 repeats. In most affected individuals, the repeat was shown to expand to 250-1600 repeats or more. The pathogenic expansions was found to be non-penetrant in carriers who were younger than 35 years of age, increasing to 50% penetrance by 58 years and to almost full penetrance by 80 years. There is also evidence of genetic anticipation in families segregating the pathogenic repeat showing an earlier age of onset in subsequent generations.
This test consists of two PCR assays that will detect first, the repeat size on alleles within the negative range of 1-30 repeats and second, the presence or absence of a positive expanded repeat. Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Evidence of genetic counseling should be provided for any presymptomatic testing.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
CPT Codes
81479
LDT or Modified FDA
Yes
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run once per month
Methodology
PCR and Southern blot
Reported
4-6 weeks
Additional Information
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Amyotrophic lateral sclerosis (ALS) and fronototemporal dementia (FTD) are neurodegenerative disorders characterized by progressive paralysis and cognitive decline, respectively. Although most of ALS and FTD cases are sporadic and idiopathic, approximately 5 - 10% of affected individuals follow a Mendelian pattern of an autosomal dominant inheritance. A hexanucleotide repeat (GGGGCC) located in the promoter region of the C9orf72 gene is strongly associated with familial cases of ALS and/or FTD and thus constitutes the basis of the present molecular diagnostic assay. Pathologic expansions (>30 repeats) can be used for the presymptomatic or symptomatic diagnosis of these disorders. Other mutations that casuse ALS and/or FTD occur in the superoxide dismutase (SOD), RNA binding protein FUS (Fused in Sarcoma) and the transcriptional repressor TDP-43 genes. None of these mutations are covered by this assay.
The C9orf72 hexanucleotide repeat in negative individuals consists of up to 30 repeats. In most affected individuals, the repeat was shown to expand to 250-1600 repeats or more. The pathogenic expansions was found to be non-penetrant in carriers who were younger than 35 years of age, increasing to 50% penetrance by 58 years and to almost full penetrance by 80 years. There is also evidence of genetic anticipation in families segregating the pathogenic repeat showing an earlier age of onset in subsequent generations.
This test consists of two PCR assays that will detect first, the repeat size on alleles within the negative range of 1-30 repeats and second, the presence or absence of a positive expanded repeat. Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Evidence of genetic counseling should be provided for any presymptomatic testing.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
Reflex Testing
Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed.
Collect
Lavender top
Amount to Collect
5 mL blood
Preferred Volume
Peripheral blood in EDTA: 5 mL
Amniotic fluid: 20 mL
CVS: 20 mg
Cultured cells: T25 flask x2
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed
Minimum Volume
Peripheral blood in EDTA: 2 mL
Amniotic fluid: 10 mL
CVS: 10 mg
Cultured cells: T25 flask x1
Remarks
Do not collect sample in heparin. Avoid hemolysis. Keep sample refrigerated for overnight or longer storage. Do not freeze.
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week.
Unacceptable Conditions
Heparinized samples. Low confluence cell cultures. Insufficient amount of amniotic fluid or chorionic villi
Processing
Test Code
ALSC9
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge or freeze. Ship at room temp or 4C. Refrigerate samples for storage.
Preferred Volume
Peripheral blood in EDTA: 5 mL
Amniotic fluid: 20 mL
CVS: 20 mg
Cultured cells: T25 flask x2
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed
Minimum Volume
Peripheral blood in EDTA: 2 mL
Amniotic fluid: 10 mL
CVS: 10 mg
Cultured cells: T25 flask x1
Unacceptable Conditions
Heparinized samples. Low confluence cell cultures. Insufficient amount of amniotic fluid or chorionic villi
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week.
Result Interpretation
Reference Interval
Negative for the hexanucleotide repeat expansion (1-30 repeats)
Additional Information
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Amyotrophic lateral sclerosis (ALS) and fronototemporal dementia (FTD) are neurodegenerative disorders characterized by progressive paralysis and cognitive decline, respectively. Although most of ALS and FTD cases are sporadic and idiopathic, approximately 5 - 10% of affected individuals follow a Mendelian pattern of an autosomal dominant inheritance. A hexanucleotide repeat (GGGGCC) located in the promoter region of the C9orf72 gene is strongly associated with familial cases of ALS and/or FTD and thus constitutes the basis of the present molecular diagnostic assay. Pathologic expansions (>30 repeats) can be used for the presymptomatic or symptomatic diagnosis of these disorders. Other mutations that casuse ALS and/or FTD occur in the superoxide dismutase (SOD), RNA binding protein FUS (Fused in Sarcoma) and the transcriptional repressor TDP-43 genes. None of these mutations are covered by this assay.
The C9orf72 hexanucleotide repeat in negative individuals consists of up to 30 repeats. In most affected individuals, the repeat was shown to expand to 250-1600 repeats or more. The pathogenic expansions was found to be non-penetrant in carriers who were younger than 35 years of age, increasing to 50% penetrance by 58 years and to almost full penetrance by 80 years. There is also evidence of genetic anticipation in families segregating the pathogenic repeat showing an earlier age of onset in subsequent generations.
This test consists of two PCR assays that will detect first, the repeat size on alleles within the negative range of 1-30 repeats and second, the presence or absence of a positive expanded repeat. Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Evidence of genetic counseling should be provided for any presymptomatic testing.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
Administrative
CPT Codes
81479
LDT or Modified FDA
Yes
Complete View
Available Stat
No
Test Code
ALSC9
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run once per month
Methodology
PCR and Southern blot
Remarks
Do not collect sample in heparin. Avoid hemolysis. Keep sample refrigerated for overnight or longer storage. Do not freeze.
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed.
Preferred Volume
Peripheral blood in EDTA: 5 mL
Amniotic fluid: 20 mL
CVS: 20 mg
Cultured cells: T25 flask x2
Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed
Minimum Volume
Peripheral blood in EDTA: 2 mL
Amniotic fluid: 10 mL
CVS: 10 mg
Cultured cells: T25 flask x1
Unacceptable Conditions
Heparinized samples. Low confluence cell cultures. Insufficient amount of amniotic fluid or chorionic villi
Specimen Preparation
Do not centrifuge or freeze. Ship at room temp or 4C. Refrigerate samples for storage.
Reference Interval
Negative for the hexanucleotide repeat expansion (1-30 repeats)
Synonyms
FTD/ALS Hexanucleotide Repeat Expansion
Frontotemporal Dimentia
Amyotropic lateral Sclerosis
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week.
Reported
4-6 weeks
Reflex Testing
Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Additional Information
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Amyotrophic lateral sclerosis (ALS) and fronototemporal dementia (FTD) are neurodegenerative disorders characterized by progressive paralysis and cognitive decline, respectively. Although most of ALS and FTD cases are sporadic and idiopathic, approximately 5 - 10% of affected individuals follow a Mendelian pattern of an autosomal dominant inheritance. A hexanucleotide repeat (GGGGCC) located in the promoter region of the C9orf72 gene is strongly associated with familial cases of ALS and/or FTD and thus constitutes the basis of the present molecular diagnostic assay. Pathologic expansions (>30 repeats) can be used for the presymptomatic or symptomatic diagnosis of these disorders. Other mutations that casuse ALS and/or FTD occur in the superoxide dismutase (SOD), RNA binding protein FUS (Fused in Sarcoma) and the transcriptional repressor TDP-43 genes. None of these mutations are covered by this assay.
The C9orf72 hexanucleotide repeat in negative individuals consists of up to 30 repeats. In most affected individuals, the repeat was shown to expand to 250-1600 repeats or more. The pathogenic expansions was found to be non-penetrant in carriers who were younger than 35 years of age, increasing to 50% penetrance by 58 years and to almost full penetrance by 80 years. There is also evidence of genetic anticipation in families segregating the pathogenic repeat showing an earlier age of onset in subsequent generations.
This test consists of two PCR assays that will detect first, the repeat size on alleles within the negative range of 1-30 repeats and second, the presence or absence of a positive expanded repeat. Positive expansions are reflexed to a Southern blot based-assay that will determine the approximate ranges of the expanded repeat.
Evidence of genetic counseling should be provided for any presymptomatic testing.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
