Collect

Blood sample in an EDTA (purple-top) tube.

Storage/Transport Temperature

Room Temp

Performed

Monday-Friday 9:00am - 4:00pm

Volume Required

3-5 ml

Minimum Required

1.5 ml

Phlebotomy Draw

Yes

Performed

Monday-Friday 9:00am - 4:00pm

Methodology

Ninety genes known to be associated with red blood cell disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 90 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing.
The panel also evaluates gross copy number variations of these genes by analyzing NGS data. Pathogenic/likely pathogenic CNVs detected by NGS are confirmed by MLPA and/or ddPCR. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.

Reported

42 days

Synonyms

  • BMFP
  • ABCB7, ACD, AK2, ALAS2, ANKRD26, ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, C15orf41, CBL, CDAN1, CSF3R, CTC1, CXCR4, DDX11, DKC1, ELANE, ERCC4, ESCO2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, GLRX5, HAX1, KIF23, KLF1, LAMTOR2, LYST, MPL, NBN, NHP2, NOP10
  • PALB2, PARN, RAB27A, RAC2, RAD51, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SEC23B, SLC25A38, SLC37A4, SLX4, SRP72, TAZ, TERC, TERT, TINF2, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53

LIS Mnemonic

BMFP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Bone Marrow Failure Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with predisposition to bone marrow failure. Bone marrow failure disorders are characterized by inadequate production of one or more blood cell lineages by bone marrow, and results from either acquired immunologic, infectious or toxic insults, or from inherited mutations in genes (at least 90 at present time) associated with bone marrow failure.  Identification of an underlying genetic cause is critical in establishing an inherited versus acquired etiology for bone marrow failure, which in turn has profound impacts on patient management and genetic counseling for families of affected patients.

Detection Rate

The diagnostic yield for comprehensive NGS panels is not yet well-established, and depends on the panel's gene content and the patient's clinical features. Estimated detection rates are provided for pathogenic variants in the genes on this panel that can be identified by gene sequencing for probands meeting the clinical diagnostic criteria for specific disorders:

Ataxia-telangiectasia: ~90-97% [PMID: 17910737, 20301790]
Barth syndrome: >95% [PMID: 25299040]
Bloom syndrome: ~87-93% [PMID: 17407155]
Cartilage-hair hypoplasia: >95% [PMID: 17189938]
Chediak-Higashi syndrome: ~90% [PMID: 20301751]
Cohen syndrome: >95% [PMID: 21330571, 19006247]
Congenital Neutropenia: ~38-80% associated with ELANE pathogenic variants [PMID: 20301705]
Diamond-Blackfan anemia: ~50-60% [PMID: 20301769]
Dyskeratosis congenita: ~70% [PMID: 20301779]
Fanconi anemia: >95% [PMID: 20417588]
Nijmegen breakage syndrome: >95% [PMID: 20301355]
Shwachman-Diamond syndrome: >90% [PMID: 20301722]
Wiskott-Aldrich syndrome: >95% [PMID: 20301357]

Molecular Testing Notes

Disorders associated with bone marrow failure can be inherited in an autosomal recessive, autosomal dominant, or x-linked manner. The Bone Marrow Failure Panel includes the following 90 genes: ABCB7, ACD, AK2, ALAS2, ANKRD26, ATM, ATR, BLM, BRCA1, BRCA2, BRIP1 (FANCJ), C15ORF41, CBL, CDAN1, CSF3R, CTC1, CXCR4, DDX11, DKC1, ELANE, ERCC4, ESCO2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, GLRX5, HAX1, KIF23, KLF1, LAMTOR2, LYST, MPL, NBN, NHP2, NOP10, PALB2, PARN, RAB27A, RAC2, RAD51, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SEC23B, SLC25A38, SLC37A4, SLX4, SRP72, TAZ, TERC, TERT, TINF2, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53.

CPT Codes

81209, 81163, 81242, 81402, 81405, 81406x3, 81408x2, 81479, 81307
Collection

Collect

Blood sample in an EDTA (purple-top) tube.

Storage/Transport Temperature

Room Temp

Performed

Monday-Friday 9:00am - 4:00pm

Volume Required

3-5 ml

Minimum Required

1.5 ml

Phlebotomy Draw

Yes
Ordering

Performed

Monday-Friday 9:00am - 4:00pm

Methodology

Ninety genes known to be associated with red blood cell disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 90 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing.
The panel also evaluates gross copy number variations of these genes by analyzing NGS data. Pathogenic/likely pathogenic CNVs detected by NGS are confirmed by MLPA and/or ddPCR. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.

Reported

42 days

Synonyms

  • BMFP
  • ABCB7, ACD, AK2, ALAS2, ANKRD26, ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, C15orf41, CBL, CDAN1, CSF3R, CTC1, CXCR4, DDX11, DKC1, ELANE, ERCC4, ESCO2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, GLRX5, HAX1, KIF23, KLF1, LAMTOR2, LYST, MPL, NBN, NHP2, NOP10
  • PALB2, PARN, RAB27A, RAC2, RAD51, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SEC23B, SLC25A38, SLC37A4, SLX4, SRP72, TAZ, TERC, TERT, TINF2, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53

LIS Mnemonic

BMFP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Bone Marrow Failure Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with predisposition to bone marrow failure. Bone marrow failure disorders are characterized by inadequate production of one or more blood cell lineages by bone marrow, and results from either acquired immunologic, infectious or toxic insults, or from inherited mutations in genes (at least 90 at present time) associated with bone marrow failure.  Identification of an underlying genetic cause is critical in establishing an inherited versus acquired etiology for bone marrow failure, which in turn has profound impacts on patient management and genetic counseling for families of affected patients.

Detection Rate

The diagnostic yield for comprehensive NGS panels is not yet well-established, and depends on the panel's gene content and the patient's clinical features. Estimated detection rates are provided for pathogenic variants in the genes on this panel that can be identified by gene sequencing for probands meeting the clinical diagnostic criteria for specific disorders:

Ataxia-telangiectasia: ~90-97% [PMID: 17910737, 20301790]
Barth syndrome: >95% [PMID: 25299040]
Bloom syndrome: ~87-93% [PMID: 17407155]
Cartilage-hair hypoplasia: >95% [PMID: 17189938]
Chediak-Higashi syndrome: ~90% [PMID: 20301751]
Cohen syndrome: >95% [PMID: 21330571, 19006247]
Congenital Neutropenia: ~38-80% associated with ELANE pathogenic variants [PMID: 20301705]
Diamond-Blackfan anemia: ~50-60% [PMID: 20301769]
Dyskeratosis congenita: ~70% [PMID: 20301779]
Fanconi anemia: >95% [PMID: 20417588]
Nijmegen breakage syndrome: >95% [PMID: 20301355]
Shwachman-Diamond syndrome: >90% [PMID: 20301722]
Wiskott-Aldrich syndrome: >95% [PMID: 20301357]

Molecular Testing Notes

Disorders associated with bone marrow failure can be inherited in an autosomal recessive, autosomal dominant, or x-linked manner. The Bone Marrow Failure Panel includes the following 90 genes: ABCB7, ACD, AK2, ALAS2, ANKRD26, ATM, ATR, BLM, BRCA1, BRCA2, BRIP1 (FANCJ), C15ORF41, CBL, CDAN1, CSF3R, CTC1, CXCR4, DDX11, DKC1, ELANE, ERCC4, ESCO2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, GLRX5, HAX1, KIF23, KLF1, LAMTOR2, LYST, MPL, NBN, NHP2, NOP10, PALB2, PARN, RAB27A, RAC2, RAD51, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SEC23B, SLC25A38, SLC37A4, SLX4, SRP72, TAZ, TERC, TERT, TINF2, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53.
Result Interpretation
Administrative

CPT Codes

81209, 81163, 81242, 81402, 81405, 81406x3, 81408x2, 81479, 81307