Grifols offers a collection kit for customers. Please follow instructions inside the kit. To order your kit, please go to the Test Ordering section.
Grifols also accepts direct ordering from labs, physician offices or others. Please follow the instructions below for the correct preparation of the sample to ensure successful delivery.
FH Index Case - 5 Genes by Sanger
Test Code | 9007748 |
Test Name | FH Index Case - 5 Genes by Sanger |
Test Method | Sanger Sequencing |
Brief Description | Genetic diagnosis of FH by Sanger sequencing of LDLR, APOB (exon 26), APOE (exon 4), PCSK9, and LDLRAP1 genes |
Detailed Description | The test detects genetic variants associated with both forms of Familial Hypercholesterolemia (FH): Autosomal Dominant Hypercholesterolemia (ADH) and Autosomal Recessive Hypercholesterolemia (ARH). Specifically, the test detects substitutions and indels in the following genetic regions: promoter, exons 1-18 and exon-intron boundaries of LDLR (FH), promoter, exons 1-12 and exon-intron boundaries of PCSK9 (ADH), exons 1-9 and exon-intron boundaries of LDLRAP1 (ARH), segment of APOB exon 26 involved in LDLR binding (Familial Defective APOB), and a segment of APOE exon 4. Identified DNA variants are reported according to a propietary and literature-based reference database. The following mutations are reported: - Mutations associated with ADH or ARH - Hypocholesterolemic mutations - Heterozygous pathogenic, possibly pathogenic or probably pathogenic mutations in LDLRAP1 (carrier status). In these cases, the report will include the following: mutation, gene, amplicon, nucleotide position, amino acid position, pathogenicity (pathogenic, probably pathogenic or possibly pathogenic) and zygosity (homozygous or heterozygous). The following variants are not reported: - Common polymorphisms considered not to have an effect on protein levels or activity - Silent variants and intron variants predicted not to alter mRNA splicing - APOB, APOE, and PCSK9 variants of unknown pathogenicity, since they can be associated with hypercholesterolemia, hypocholesterolemia, or other alterations. A list of unreported variants is available upon request. In these cases, the report will indicate "No Pathogenic Mutations Detected". |
Clinical Information | FH is a genetic disorder of lipoprotein metabolism characterised by high levels of LDLc in plasma and an increased risk of premature heart disease. Genetic testing of FH provides a definitive diagnosis for the disease and offers added value in the form of cascade (family) screening, diagnosis at an early age, personalized treatment based on the severity, and increased compliance with treatment. For additional information, please visit Test Menu > FH Genetic Testing > Clinical Value |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
The U.S. Food and Drug Administration (FDA) has not approved this test. The results of this test are not intended to be used as the sole means of patient management decisions.
FH LDLR Gene by MLPA
Test Code | 9007749 |
Test Name | FH LDLR Gene by MLPA |
Test Method | MLPA |
Brief Description | Genetic Diagnosis of FH by Multiplex Ligation-dependent Probe Amplification (MLPA) analysis of the LDLR gene |
Detailed Description | The test detects genetic mutations in the LDLR gene associated with Autosomal Dominant Hypercholesterolemia (ADH). Specifically, it detects Copy Number Variations (CNVs) such as large deletions and duplications, which account for 5-10% of all LDLR mutations. CNVs can affect one or multiple genetic segments (promoter, exons, introns). For each targeted genetic segment (promoter, exon) two probes hybridized to adjacent sites are ligated into a single one, which is used for subsequently amplification. The amplification products are detected by capillary electrophoresis as fluorescent peaks, and their height compared to that of a reference sequence. Peak height is a measure of copy number, with a decrease indicating deletion and an increase duplication. |
Clinical Information | FH is a genetic disorder of lipoprotein metabolism characterised by high levels of LDLc in plasma and an increased risk of premature heart disease. Genetic testing of FH provides a definitive diagnosis for the disease and offers added value in the form of cascade (family) screening, diagnosis at an early age, personalized treatment based on the severity, and increased compliance with treatment. For additional information, please visit Test Menu > FH Genetic Testing > Clinical Value |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
For Research Use Only (RUO). Not for use in diagnostic procedures.
FH Family Case by Sanger
Test Code | 9007747 |
Test Name | FH Family Case by Sanger |
Test Method | Sanger Sequencing and/or MLPA |
Brief Description | Genetic Diagnosis of FH for relatives of a molecularly diagnosed FH patient |
Detailed Description | The test targets in relatives the specific FH-causing genetic variant detected in a patient. It may consist of single-amplicon Sanger sequencing (for the detection of SNPs or small variants) or Multiplex Ligation-dependent Probe Amplification (for the detection of Copy Number Variation variants). |
Clinical Information | FH is a genetic disorder of lipoprotein metabolism characterised by high levels of LDLc in plasma and an increased risk of premature heart disease. Genetic testing of FH provides a definitive diagnosis for the disease and offers added value in the form of cascade (family) screening, diagnosis at an early age, personalized treatment based on the severity, and increased compliance with treatment. For additional information, please visit Test Menu > FH Genetic Testing > Clinical Value |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
The U.S. Food and Drug Administration (FDA) has not approved this test. The results of this test are not intended to be used as the sole means of patient management decisions.
FH Index Case - 5 Genes by NGS
Test Code | 9008512 |
Test Name | FH Index Case - 5 Genes by NGS |
Test Method | Next Generation Sequencing |
Brief Description | Genetic diagnosis of FH by Next Generation sequencing of LDLR, APOB (exon 26), APOE (exon 4), PCSK9 and LDLRAP1 genes |
Detailed Description | The test detects genetic variants associated with both forms of Familial Hypercholesterolemia (FH): Autosomal Dominant Hypercholesterolemia (ADH) and Autosomal Recessive Hypercholesterolemia (ARH). Specifically, the test detects substitutions and indels in the following genetic regions: promoter, exons 1-18 and exon-intron boundaries of LDLR (FH), promoter, exons 1-12 and exon-intron boundaries of PCSK9 (ADH), exons 1-9 and exon-intron boundaries of LDLRAP1 (ARH), segments of APOB exons 26 and 29 involved in LDLR binding (Familial Defective APOB), and a segment of APOE exon 4. Identified DNA variants are reported according to a propietary and literature-based reference database. The test also detects FH-associated Copy Number Variations (CNV) in the promoter and exons 1-18 of LDLR gene. Specifically, genomic DNA is isolated from whole blood, saliva or a buccal swab. Regions of interest are amplified by multiplex PCR. A second amplification is performed in order to introduce in the products an 8-nucleotide index sequence (used for sample identification) and adaptors (used for sequencing on Illumina's MiSeq). Proprietary data analysis algorithms are used to determine the presence or absence of CNVs. The following mutations are reported: - Mutations associated with ADH or ARH - Hypocholesterolemic mutations - Heterozygous pathogenic, possibly pathogenic or probably pathogenic mutations in LDLRAP1 (carrier status). In these cases, the report will include the following: mutation, gene, amplicon, nucleotide position, amino acid position, pathogenicity (pathogenic, probably pathogenic or possibly pathogenic) and zygosity (homozygous or heterozygous). The following variants are not reported: - Common polymorphisms considered not to have an effect on protein levels or activity - Silent variants and intron variants predicted not to alter mRNA splicing - APOB, APOE and PCSK9 variants of unknown pathogenicity, since they can be associated with hypercholesterolemia, hypocholesterolemia or other alterations. A list of unreported variants is available upon request. In these cases, the report will indicate "No Pathogenic Mutations Detected". |
Clinical Information | FH is a genetic disorder of lipoprotein metabolism characterised by high levels of LDLc in plasma and an increased risk of premature heart disease. Genetic testing of FH provides a definitive diagnosis for the disease and offers added value in the form of cascade (family) screening, diagnosis at an early age, personalized treatment based on the severity, and increased compliance with treatment. For additional information, please visit Test Menu > FH Genetic Testing > Clinical Value |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
The U.S. Food and Drug Administration (FDA) has not approved this test. The results of this test are not intended to be used as the sole means of patient management decisions.
FH STAP1 Gene by NGS
Test Code | 9008929 |
Test Name | FH STAP1 Gene by NGS |
Test Method | Next Generation Sequencing |
Brief Description | Genetic diagnosis of FH by Next Generation sequencing of the STAP1 gene |
Detailed Description | The test detects variants (substitutions and indels) in exons and intron-exon boundaries of the STAP1 gene which have been described in Familial Hypercholesterolemia patients and associated with the disease. Genomic DNA is isolated from whole blood, saliva or a buccal swab. Regions of interest are amplified by multiplex PCR. A second amplification is performed in order to introduce in the products an 8-nucleotide index sequence (used for sample identification) and adaptors (used for sequencing on Illumina's MiSeq). Proprietary data analysis algorithms are used to determine the presence or absence of CNVs. The following mutations are reported: - Mutations associated with ADH or ARH - Hypocholesterolemic mutations - Heterozygous pathogenic, possibly pathogenic or probably pathogenic mutations in LDLRAP1 (carrier status). In these cases, the report will include the following: mutation, gene, amplicon, nucleotide position, amino acid position, pathogenicity (pathogenic, probably pathogenic or possibly pathogenic) and zygosity (homozygous or heterozygous). The following variants are not reported: - Common polymorphisms considered not to have an effect on protein levels or activity - Silent variants and intron variants predicted not to alter mRNA splicing - APOB, APOE and PCSK9 variants of unknown pathogenicity, since they can be associated with hypercholesterolemia, hypocholesterolemia or other alterations. A list of unreported variants is available upon request. In these cases, the report will indicate "No Pathogenic Mutations Detected". |
Clinical Information | FH is a genetic disorder of lipoprotein metabolism characterised by high levels of LDLc in plasma and an increased risk of premature heart disease. Genetic testing of FH provides a definitive diagnosis for the disease and offers added value in the form of cascade (family) screening, diagnosis at an early age, personalized treatment based on the severity, and increased compliance with treatment. For additional information, please visit Test Menu > FH Genetic Testing > Clinical Value |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
The U.S. Food and Drug Administration (FDA) has not approved this test. The results of this test are not intended to be used as the sole means of patient management decisions.
FH LIPA Gene by NGS
Test Code | 9008930 |
Test Name | FH LIPA Gene by NGS |
Test Method | Next Generation Sequencing |
Brief Description | Genetic diagnosis of FH by Next Generation sequencing of the LIPA gene |
Detailed Description | The test detects variants (substitutions and indels) in exons and intron-exon boundaries of the LIPA gene which have been described in Familial Hypercholesterolemia patients and associated with the disease. Genomic DNA is isolated from whole blood, saliva or a buccal swab. Regions of interest are amplified by multiplex PCR. A second amplification is performed in order to introduce in the products an 8-nucleotide index sequence (used for sample identification) and adaptors (used for sequencing on Illumina's MiSeq). Proprietary data analysis algorithms are used to determine the presence or absence of CNVs. The following mutations are reported: - Mutations associated with ADH or ARH - Hypocholesterolemic mutations - Heterozygous pathogenic, possibly pathogenic or probably pathogenic mutations in LDLRAP1 (carrier status). In these cases, the report will include the following: mutation, gene, amplicon, nucleotide position, amino acid position, pathogenicity (pathogenic, probably pathogenic or possibly pathogenic) and zygosity (homozygous or heterozygous). The following variants are not reported: - Common polymorphisms considered not to have an effect on protein levels or activity - Silent variants and intron variants predicted not to alter mRNA splicing - APOB, APOE and PCSK9 variants of unknown pathogenicity, since they can be associated with hypercholesterolemia, hypocholesterolemia or other alterations. A list of unreported variants is available upon request. In these cases, the report will indicate "No Pathogenic Mutations Detected". |
Clinical Information | FH is a genetic disorder of lipoprotein metabolism characterised by high levels of LDLc in plasma and an increased risk of premature heart disease. Genetic testing of FH provides a definitive diagnosis for the disease and offers added value in the form of cascade (family) screening, diagnosis at an early age, personalized treatment based on the severity, and increased compliance with treatment. For additional information, please visit Test Menu > FH Genetic Testing > Clinical Value |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
The U.S. Food and Drug Administration (FDA) has not approved this test. The results of this test are not intended to be used as the sole means of patient management decisions.
FH Polygenic 12 SNPs by NGS
Test Code | 9008510 |
Test Name | FH Polygenic 12 SNPs by NGS |
Test Method | Next Generation Sequencing |
Brief Description | Genetic Diagnosis of Polygenic FH through the detection of 12 SNPs by NGS |
Detailed Description | The test interrogates 12 SNPs associated with a polygenic form of Familial Hypercholesterolemia. Specifically: rs429358 & rs7412 in chromosome 19 of APOE, rs4299376 in chromosome 2 of ABCG5/8, rs1367117 in chromosome 2 of APOB, rs1800562 in chromosome 6 of HFE, rs6511720 in chromosome 19 of LDLR, rs1564348 in chromosome 6 of SLC22A1, rs3757354 in chromosome 6 of MYLIP, rs8017377 in chromosome 14 of NYNRIN, rs2479409 in chromosome 1 of PCSK9, rs629301 in chromosome 1 of SORT1, and rs11220462 in chromosome 11 of ST3GAL4. Genomic DNA is isolated from whole blood, saliva or a buccal swab. Regions of interest are amplified by multiplex PCR. A second amplification is performed in order to introduce in the products an 8-nucleotide index sequence (used for sample identification) and adaptors (used for sequencing on Illumina's MiSeq). A score is calculated from the genotype detected at each of the 12 polymorphic positions*. |
Clinical Information | FH is a genetic disorder of lipoprotein metabolism characterised by high levels of LDLc in plasma and an increased risk of premature heart disease. Genetic testing of FH provides a definitive diagnosis for the disease and offers added value in the form of cascade (family) screening, diagnosis at an early age, personalized treatment based on the severity, and increased compliance with treatment. For additional information, please visit Test Menu > FH Genetic Testing > Clinical Value |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
The U.S. Food and Drug Administration (FDA) has not approved this test. The results of this test are not intended to be used as the sole means of patient management decisions.
Statin Intolerance by Sanger
Test Code | 9008513 |
Test Name | Statin Intolerance by Sanger |
Test Method | Capillary Electrophoresis Sequencing |
Brief Description | Genetic test to predict intolerance to statins |
Detailed Description | The test interrogates a genetic variant in the SLCO1B1 gene associated with muscle symptoms due to statin therapy. The polymorphism ID is rs4149056, and the variant allele SLCO1B1*5. |
Clinical Information | The presence of the SLCO1B1*5 allele has been associated with an increased risk for simvastatin-associated myopathy. (2008 N Engl J Med. 359, 789). The presence of this allele has not been associated with other statin-associaled muscle symptoms. |
Specimen | Volume/Amount | Container |
---|---|---|
Whole Blood | 3 mL | EDTA collection tube |
Genomic DNA | 3 μg at ≥ 50 ng/μL A₂₆₀/A₂₈₀: 1.65-2.00 A₂₆₀/A₂₃₀ ≥ 1.5 | DNA collection tube |
Saliva | Follow manufacturer instructions | Oragene© DNA (OG-510, OGD-500) |
Buccal Swab | Follow manufacturer instructions | Oracollect© DNA (OCR-100) |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be stored at refrigerated temperature (2-8°C) for up to 7 days from collection. Do not freeze. |
Genomic DNA | Sample can be stored at room temperature (20-25°C) for up to 7 days from collection. DNA must be dissolved in water or a low-salt buffer. |
Saliva | Follow manufacturer instructions |
Buccal Swab | Follow manufacturer instructions |
Specimen | Conditions |
---|---|
Whole Blood | Samples can be shipped overnight at room temperature (20-25°C) or refrigerated (2-8°C) |
Genomic DNA | Samples can be shipped overnight at room temperature (20-25°C), refrigerated (2-8°C) or frozen (–15 to –25°C) |
Saliva | Samples can be shipped overnight at room temperature (20-25°C) |
Buccal Swab | Samples can be shipped overnight at room temperature (20-25°C) |
Time Around Time | 3 weeks from receipt of sample |
Test Price ($) | Please contact your Grifols sales representative or Grifols lab customer support at dxscmcustomer.service@grifols.com |
The U.S. Food and Drug Administration (FDA) has not approved this test. The results of this test are not intended to be used as the sole means of patient management decisions.
This information is intended for physicians and healthcare professionals only.
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