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Test Code
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5311
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Test Name
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Atrial Fibrillation NGS Panel
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CPT Codes
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81479
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Expected Turnaround Time
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Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
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Clinical Utility
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Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
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Specimen and Container Info
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Non-Prenatal Specimens Preferred/Alternate | Specimen Type | Containers | Volume | Preferred Specimen Type | Whole Blood | Lavender Top (EDTA) | 3 mL | Alternate Specimen Type | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. | Alternate Specimen Type | Fibroblasts | T-25 Flasks | 2 confluent T-25 flasks, filled to capacity | Alternate Specimen Type | Saliva (Whole blood is recommended for CNV) | DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children | Follow kit instructions (www.dnagenotek.com) |
Prenatal Specimens Either specimen type below is acceptable. Specimen Type | Containers | Volume | Cultured cells | T-25 Flasks | 2 confluent T-25 flasks derived from amnio or CVS samples. | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. |
NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico. |
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Transport Instructions
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- Transport at room temperature within 24 hours.
- If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
- Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.
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Stability Requirements
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Room Temperature
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Refrigerated
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Causes for Rejection
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- Improperly labeled specimen (minimum of two patient identifiers)
- Inappropriate specimen type
- Incomplete or incorrect test request form
- Insufficient volume
- Specimen has leaked in transit
- Specimen without a test order
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Methodology
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Next Generation Sequencing and Copy Number Variation Analysis
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Performing Location
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Genomics - Snowdrift
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Alternate Names
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AFIB
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Description
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Atrial fibrillation is the most common type of cardiac arrhythmia with a prevalence of about 1-2% in the general population. Prevalence increases with age; it is estimated to be approximately 10% in individuals 80 years of age. Atrial fibrillation is associated with several risk factors such as atherosclerosis and hypertension. Genetic factors are estimated to account for about 30% of the cases. The Atrial fibrillation NGS panel consists of twenty-two genes: ABCC9, GATA6, GJA5, GLA, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A and TBX5. Gene | Disorder | MIM | Inheritance | ABCC9 | Atrial fibrillation, familial, 12 (ATFB12) Cantu syndrome Cardiomyopathy, dilated, 10 (CMD10) | 614050 239850 608569 | AD AD AD | GATA6 | Atrial fibrillation, GATA6 related Atrial septal defect 9 (ASD9) Atrioventricular septal defect 5 (AVSD5) Persistent truncus arteriosus (PTA) Tetralogy of Fallot (TOF) Pancreatic agenesis and congenital heart defects (PACHD) | - 614475 614474 217095 187500 600001 | AD AD AD AD AD AD | GJA5 | Atrial fibrillation, familial, 11 (ATFB11) | 614049 | AD | GLA | Fabry disease | 301500 | XL | HCN4 | Atrial fibrillation, HCN4 related Brugada syndrome 8 (BRGDA8) Sick sinus syndrome 2 (SSS2) | - 613123 163800 | AD AD AD | KCNA5 | Atrial fibrillation, familial, 7 (ATFB7) | 612240 | AD | KCND3 | Atrial fibrillation, KCND3 related Brugada syndrome 9 (BRGDA9) | - 616399 | AD AD | KCNE1 | Atrial fibrillation, KCNE1 related Long QT syndrome 5 (LQT5) Jervell and Lange-Nielsen syndrome 2 (JLNS2) | - 613695 612347 | AD AD AR | KCNE2 | Atrial fibrillation, familial, 4 (ATFB4) Long QT syndrome 6 (LQT6) | 611493 613693 | AD AD | KCNH2 | Atrial fibrillation, KCNH2 related Brugada syndrome, KCNH2 related Long QT syndrome 2 (LQT2) Short QT syndrome 1 (SQT1) | - - 613688 609620 | AD AD AD AD | KCNJ2 | Atrial fibrillation, familial, 4 (ATFB9) Long QT syndrome 7 (LQT7), Andersen syndrome Short QT syndrome 3 (SQT3) | 613980 170390 609622 | AD AD AD | KCNQ1 | Atrial fibrillation, familial, 3 (ATFB3) Jervell and Lange-Nielsen syndrome 1 (JLNS1) Long QT syndrome 1 (LQT1) Short QT syndrome 2 (SQT2) | 607554 220400 192500 609621 | AD AR AD AD | LMNA | Atrial fibrillation, LMNA related Cardiomyopathy, dilated, 1A (CMD1A) | - 115200 | AD AD | MYL4 | Atrial fibrillation, familial, 18 (ATFB18) | 617280 | AD | NPPA | Atrial fibrillation, familial, 6 (ATFB6) Atrial standstill 2 (ATRST2) | 612201 615745 | AD AR | NUP155 | Atrial fibrillation, familial, 15 (ATFB15) | 615770 | AR | SCN1B | Atrial fibrillation, familial, 13 (ATFB13) Brugada syndrome 5 (BRGDA5) | 615377 612838 | AD AD | SCN2B | Atrial fibrillation, familial, 14 (AFTB14) Brugada syndrome, SCN2B related | 615378 - | AD AD | SCN3B | Atrial fibrillation, familial, 16 (AFTB16) Brugada syndrome 7 (BRGDA7) | 608214 613120 | AD AD | SCN4B | Atrial fibrillation, familial, 17 (ATFB17) Long QT syndrome 10 (LQT10) | 611819 611819 | AD AD | SCN5A | Atrial fibrillation, familial, 10 (AFTB10) Brugada syndrome 1 (BRGDA1) Cardiomyopathy, dilated, 1E (CMD1E) Heart block, progressive, type IA (PFHB1A) Long QT syndrome 3 (LQT3) Sick sinus syndrome 1 (SSS1) Ventricular fibrillation, familial, 1 (VF1) | 614022 601144 601154 113900 603830 608567 603829 | AD AD AD AD AD AR AD | TBX5 | Atrial fibrillation, TBX5 related Holt-Oram syndrome (HOS) | - 142900 | AD AD |
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Testing Schedule
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Monday-Friday
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Genes
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ABCC9, GATA6, GJA5, GLA, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5
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Disease Group
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Cardiovascular Disorders
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