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

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

Performing Lab

Cytogenetics: Specimen Preparation of Cultured Fibroblasts ONLY
Clinical Genomics: Testing Laboratory

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

  1. Blood
  2. Skin Punch Biopsy

Specimen Volume

Blood:
  • Adult: 5 mL (Minimum: 1 mL)
  • Pediatric: 1 mL (Minimum: 1 mL)
Skin Punch Biopsy: 4 mm3 (Minimum: 2 mm3)

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

Collection Container

Blood
*Blood specimens can be sent directly to the Clinical Genomics Laboratory

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Skin Punch Biopsy
*Skin Punch Biopsy specimens need to be sent to the Cytogenetics Laboratory after collection so that the specimen can be processed and cultured prior to transport to the Clinical Genomics Laboratory. Do NOT send directly to Clinical Genomics.

Sterile Container with Transport Medium or Sterile Saline
 
  • Transport medium is available from the Cytogenetics Lab (858) 657-5832

Pediatric Collection

Blood
*Blood specimens can be sent directly to the Clinical Genomics Laboratory

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Skin Punch Biopsy
*Skin Punch Biopsy specimens need to be sent to the Cytogenetics Laboratory after collection so that the specimen can be processed and cultured prior to transport to the Clinical Genomics Laboratory. Do NOT send directly to Clinical Genomics.

Sterile Container with Transport Medium or Sterile Saline
 
  • Transport medium is available from the Cytogenetics Lab (858) 657-5832

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
  • Formalin-fixed tissue specimens
  • Formalin-fixed paraffin embedded (FFPE) tissue specimens
  • 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

*Skin Punch Biopsy specimens should be collected and transported to the Cytogenetics Lab for processing and culture prior to testing.
 
Transport Instructions
Collection Location Specimen Type Transport Temperature Timeframe
ED/Inpatient Blood Room Temperature Specimen must be received by the Clinical Genomics Lab within 3 days of collection
Skin Punch Biopsy Room Temperature Specimen must be received by the Cytogenetics Lab within 48 hours of collection
Laboratory/
Outpatient/
Off-Site		 Blood Room Temperature Specimen must be received by the Clinical Genomics Lab within 3 days of collection
Skin Punch Biopsy Room Temperature Specimen must be received by the Cytogenetics Lab within 48 hours of collection

Storage:
  • Blood: Refrigerated
  • Skin Punch Biopsy: Room Temperature

Stability (from collection to initiation)

Stability:
 
Blood:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
 
Skin Punch Biopsy:
  • Room Temperature: 48 hours
  • Refrigerated: Unacceptable
  • Frozen: Unacceptable
 
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen:
    • Blood: Refrigerated
    • Skin Punch Biopsy: Original specimen refrigerated if not exhausted
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 
    • ​​​​​​​Blood: 1 month
    • Skin Punch Biopsy: Left over tissue or cultured cells are maintainted for 2 weeks after results are finalized
  • 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:

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

Skin Punch Biopsy
  1. Using sterile technique, collect specimen aseptically into Sterile Container
  2. Fill the Sterile Container with tissue culture transport medium or sterile saline, so that the specimen is fully submerged
  • Acceptable transport mediums include: 
    • Tissue culture medium provided by the Cytogenetics Lab
    • Plain RPMI medium
    • Hank's solution
    • Sterile saline
    • Ringer's solution
  • If using tissue culture transport medium provided by the Cytogenetics Lab, larger collection containers can be flooded using several tubes of tissue culture transport medium in order to fully submerge the specimen
  1. Ensure that the cap on the collection container is tightly closed to prevent leaking
  2. Send specimen to the Cytogenetics Lab immediately

Processing Instructions (Cytogenetics Laboratory):

Skin Punch Biopsy
  1. Culture the Skin Punch Biopsy specimen in 1-2 T-25 flasks until they reach 80% confluency
  1. Ensure that the cap on the collection container is tightly closed to prevent leaking
  2. Submit cultured skin fibroblasts to the Clinical Genomics Lab for testing

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 either a peripheral blood sample or cultured fibroblasts from a skin punch biopsy as a source of germline DNA, the test interrogates the coding regions of a total of 80 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 80 genes detected by the Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel
ACD ADA2 ALAS2 ANKRD26 ATM BRCA1 BRCA2 BRIP1 CEBPA CHEK2
CSF3R CTC1 CXCR4 DDX41 DKC1 DNAJC21 ELANE ERCC4 ERCC6L2 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

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

Performing Lab

Cytogenetics: Specimen Preparation of Cultured Fibroblasts ONLY
Clinical Genomics: Testing Laboratory

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

  1. Blood
  2. Skin Punch Biopsy

Specimen Volume

Blood:
  • Adult: 5 mL (Minimum: 1 mL)
  • Pediatric: 1 mL (Minimum: 1 mL)
Skin Punch Biopsy: 4 mm3 (Minimum: 2 mm3)

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

Collection Container

Blood
*Blood specimens can be sent directly to the Clinical Genomics Laboratory

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Skin Punch Biopsy
*Skin Punch Biopsy specimens need to be sent to the Cytogenetics Laboratory after collection so that the specimen can be processed and cultured prior to transport to the Clinical Genomics Laboratory. Do NOT send directly to Clinical Genomics.

Sterile Container with Transport Medium or Sterile Saline
 
  • Transport medium is available from the Cytogenetics Lab (858) 657-5832

Pediatric Collection

Blood
*Blood specimens can be sent directly to the Clinical Genomics Laboratory

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Skin Punch Biopsy
*Skin Punch Biopsy specimens need to be sent to the Cytogenetics Laboratory after collection so that the specimen can be processed and cultured prior to transport to the Clinical Genomics Laboratory. Do NOT send directly to Clinical Genomics.

Sterile Container with Transport Medium or Sterile Saline
 
  • Transport medium is available from the Cytogenetics Lab (858) 657-5832

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
  • Formalin-fixed tissue specimens
  • Formalin-fixed paraffin embedded (FFPE) tissue specimens
  • 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

*Skin Punch Biopsy specimens should be collected and transported to the Cytogenetics Lab for processing and culture prior to testing.
 
Transport Instructions
Collection Location Specimen Type Transport Temperature Timeframe
ED/Inpatient Blood Room Temperature Specimen must be received by the Clinical Genomics Lab within 3 days of collection
Skin Punch Biopsy Room Temperature Specimen must be received by the Cytogenetics Lab within 48 hours of collection
Laboratory/
Outpatient/
Off-Site		 Blood Room Temperature Specimen must be received by the Clinical Genomics Lab within 3 days of collection
Skin Punch Biopsy Room Temperature Specimen must be received by the Cytogenetics Lab within 48 hours of collection

Storage:
  • Blood: Refrigerated
  • Skin Punch Biopsy: Room Temperature

Stability (from collection to initiation)

Stability:
 
Blood:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
 
Skin Punch Biopsy:
  • Room Temperature: 48 hours
  • Refrigerated: Unacceptable
  • Frozen: Unacceptable
 
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen:
    • Blood: Refrigerated
    • Skin Punch Biopsy: Original specimen refrigerated if not exhausted
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 
    • ​​​​​​​Blood: 1 month
    • Skin Punch Biopsy: Left over tissue or cultured cells are maintainted for 2 weeks after results are finalized
  • 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:

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

Skin Punch Biopsy
  1. Using sterile technique, collect specimen aseptically into Sterile Container
  2. Fill the Sterile Container with tissue culture transport medium or sterile saline, so that the specimen is fully submerged
  • Acceptable transport mediums include: 
    • Tissue culture medium provided by the Cytogenetics Lab
    • Plain RPMI medium
    • Hank's solution
    • Sterile saline
    • Ringer's solution
  • If using tissue culture transport medium provided by the Cytogenetics Lab, larger collection containers can be flooded using several tubes of tissue culture transport medium in order to fully submerge the specimen
  1. Ensure that the cap on the collection container is tightly closed to prevent leaking
  2. Send specimen to the Cytogenetics Lab immediately

Processing Instructions (Cytogenetics Laboratory):

Skin Punch Biopsy
  1. Culture the Skin Punch Biopsy specimen in 1-2 T-25 flasks until they reach 80% confluency
  1. Ensure that the cap on the collection container is tightly closed to prevent leaking
  2. Submit cultured skin fibroblasts to the Clinical Genomics Lab for testing
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 either a peripheral blood sample or cultured fibroblasts from a skin punch biopsy as a source of germline DNA, the test interrogates the coding regions of a total of 80 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 80 genes detected by the Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel
ACD ADA2 ALAS2 ANKRD26 ATM BRCA1 BRCA2 BRIP1 CEBPA CHEK2
CSF3R CTC1 CXCR4 DDX41 DKC1 DNAJC21 ELANE ERCC4 ERCC6L2 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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