Ordering Recommendations

A completed test request form must be included with the specimen. Ensure that the following information is included on the test request form:
  • Clinical Indication
  • ICD-10 Diagnosis Code

Performed

Weekly

Methodology

Next Generation Sequencing (NGS)

Reported

Routine: 16 days from receipt of specimen

Synonyms

  • Clinical Genomics
  • Inherited Disease
  • Next Generation Sequencing (NGS)
  • Aplastic Anemia
  • Severe Congenital Neutropenia (SCN)
  • Congenital Amegakaryocytic Thrombocytopenia (CAMT)
  • Diamond-Blackfan Anemia (DBA)
  • Schwachman-Diamond Syndrome (SDS)
  • Dyskeratosis Congenita (DC)
  • Telomere Biology Disorders (TBD)
  • Fanconi Anemia (FA)
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Myeloid

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on

Specimen Type

Blood

Specimen Volume

Adult: 5 mL (Minimum: 1 mL)

Pediatric: 1 mL (Minimum: 1 mL)

*This refers to specimen volume at collection prior to any processing

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Pediatric Collection

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Blood specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection LocationTransport TemperatureProcessing RequiredTimeframe
ED/InpatientRoom TemperatureNoneSpecimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-SiteRoom TemperatureNoneSpecimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     

    Reference Interval

    The reference interval for the Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel is defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

    Interpretive Data

    Refer to report for result specific interpretation details.

    The Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel is a next generation sequencing assay (NGS) which evaluates a panel of genes for the presence of pathogenic variants associated with inherited predisposition to myeloid malignancies and inherited bone marrow failure syndromes such as Fanconi anemia (FA), telomere biology disorders (TBD) such as dyskeratosis congenita (DC), Schwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), congenital amegakaryocytic thrombocytopenia (CAMT), severe congenital neutropenia (SCN), and aplastic anemia. Using a peripheral blood sample as a source of germline DNA, the test interrogates the coding regions of a total of 83 genes which are known to be clinically relevant for the development of these disorders. The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.

    Consent for genetic testing is recommended.

    List of the 83 genes detected by the Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel

    ACD ADA2 ALAS2 ANKRD26 ATM BRCA1 BRCA2 BRIP1 CDK4 CDKN2A
    CEBPA CHEK2 CSF3R CTC1 CXCR4 DDX41 DKC1 DNAJC21 ELANE ERCC4
    ERCC6L2 ERG ETV6 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG
    FANCI FANCL G6PC3 GATA1 GATA2 GFI1 HAX1 KRAS MECOM MPL
    MYH9 NF1 NHP2 NOP10 NRAS PALB2 PARN PAX5 POT1 PTEN
    PTPN11 RAD51C RAD51D RBM8A RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
    RPS19 RPS24 RPS26 RPS29 RPS7 RTEL1 RUNX1 SAMD9 SAMD9L SBDS
    SLX4 SRP54 SRP72 TERC TERT TET2 TINF2 TP53 UBE2T USB1
    VPS45 WAS WRAP53
    Ordering

    Ordering Recommendations

    A completed test request form must be included with the specimen. Ensure that the following information is included on the test request form:
    • Clinical Indication
    • ICD-10 Diagnosis Code

    Performed

    Weekly

    Methodology

    Next Generation Sequencing (NGS)

    Reported

    Routine: 16 days from receipt of specimen

    Synonyms

    • Clinical Genomics
    • Inherited Disease
    • Next Generation Sequencing (NGS)
    • Aplastic Anemia
    • Severe Congenital Neutropenia (SCN)
    • Congenital Amegakaryocytic Thrombocytopenia (CAMT)
    • Diamond-Blackfan Anemia (DBA)
    • Schwachman-Diamond Syndrome (SDS)
    • Dyskeratosis Congenita (DC)
    • Telomere Biology Disorders (TBD)
    • Fanconi Anemia (FA)
    • Inherited Bone Marrow Failure Syndromes
    • Inherited Myeloid

    Performing Lab

    Clinical Genomics

    Turnaround Time

    After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

    Add-on Eligibility

    Yes, within 7 days of collection
    *If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on
    Collection

    Specimen Type

    Blood

    Specimen Volume

    Adult: 5 mL (Minimum: 1 mL)

    Pediatric: 1 mL (Minimum: 1 mL)

    *This refers to specimen volume at collection prior to any processing

    Collection Container

    EDTA Whole Blood Tube (Lavender Top Vacutainer)

    Pediatric Collection

    3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

    Unacceptable Conditions

    1. Severely clotted or grossly hemolyzed specimens
    2. Specimens that have been improperly collected, stored, or transported
    • Blood specimens collected in preservatives other than EDTA
      • ACD tubes are accepted, but EDTA is preferred
    • Serum or plasma
    • Specimens that have been frozen
    • Commingled specimens
    1. Specimens in tubes that have been damaged or broken during transport
    2. Specimens with insufficient volume for testing
    3. Unlabeled or mislabeled specimens

    Storage/Transport Temperature

    Transport Instructions
    Collection LocationTransport TemperatureProcessing RequiredTimeframe
    ED/InpatientRoom TemperatureNoneSpecimen must be received by the lab within 3 days of collection
    Laboratory/Outpatient/Off-SiteRoom TemperatureNoneSpecimen must be received by the lab within 3 days of collection

    Storage: Refrigerated

    Stability (from collection to initiation)

    Stability:
    Prior to Extraction:
    • Room Temperature: 3 days
    • Refrigerated: 7 days
    • Frozen: Unacceptable
    Extracted DNA:
    • Room Temperature: Unacceptable
    • Refrigerated: Unacceptable
    • Frozen: Indefinitely

    Laboratory Storage: 
    • Original Specimen: Refrigerated
    • Extracted DNA: Frozen
    Laboratory Retention: 
    • Original Specimen: 1 month
    • Extracted DNA: 6 weeks

    Collection Instructions

    Labeling Instructions:
    1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
    2. Ensure that the barcode is in the correct orientation.

    Collection Instructions:
    1. Follow the correct order of draw when collecting with additional orders and tube types:
         
      Result Interpretation

      Reference Interval

      The reference interval for the Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel is defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

      Interpretive Data

      Refer to report for result specific interpretation details.

      The Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel is a next generation sequencing assay (NGS) which evaluates a panel of genes for the presence of pathogenic variants associated with inherited predisposition to myeloid malignancies and inherited bone marrow failure syndromes such as Fanconi anemia (FA), telomere biology disorders (TBD) such as dyskeratosis congenita (DC), Schwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), congenital amegakaryocytic thrombocytopenia (CAMT), severe congenital neutropenia (SCN), and aplastic anemia. Using a peripheral blood sample as a source of germline DNA, the test interrogates the coding regions of a total of 83 genes which are known to be clinically relevant for the development of these disorders. The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.

      Consent for genetic testing is recommended.

      List of the 83 genes detected by the Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel

      ACD ADA2 ALAS2 ANKRD26 ATM BRCA1 BRCA2 BRIP1 CDK4 CDKN2A
      CEBPA CHEK2 CSF3R CTC1 CXCR4 DDX41 DKC1 DNAJC21 ELANE ERCC4
      ERCC6L2 ERG ETV6 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG
      FANCI FANCL G6PC3 GATA1 GATA2 GFI1 HAX1 KRAS MECOM MPL
      MYH9 NF1 NHP2 NOP10 NRAS PALB2 PARN PAX5 POT1 PTEN
      PTPN11 RAD51C RAD51D RBM8A RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
      RPS19 RPS24 RPS26 RPS29 RPS7 RTEL1 RUNX1 SAMD9 SAMD9L SBDS
      SLX4 SRP54 SRP72 TERC TERT TET2 TINF2 TP53 UBE2T USB1
      VPS45 WAS WRAP53

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