Collect

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

Storage/Transport Temperature

Room Temp

Volume Required

3-5 ml

Minimum Required

1.5 mL

Phlebotomy Draw

Yes

Methodology

Twenty-five genes known to be associated with chromosome breakage disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 25 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

  • Ataxia-telangiectasia, Bloom syndrome, Lig4 syndrome, Nijmegen breakage syndrome, Radiation sensitive SCID, Roberts syndrome, and Warsaw breakage syndrome
  • FACHP
  • ATM, BLM, BRCA1 (FANCS), BRCA2 (FANCD1), DDX11, ERCC4 (FANCQ), ESCO2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCJ (BRIP1), FANCL, FANCM, LIG4, NBN, NHEJ1, PALB2 (FANCN), RAD51 (FANCR), RAD51C (FANCO), SLX4 (FANCP)

LIS Mnemonic

FACHP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Fanconi Anemia/Rare Chromosomal Breakage Disorders Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with Fanconi Anemia and other chromosome breakage disorders. These are disorders of DNA repair and chromosome maintenance typically associated with multiple congenital and developmental abnormalities, risk of bone marrow failure, and predisposition to malignancy, particularly leukemia and lymphoma.  Many of the conditions identifiable through this panel also have additional clinical features which are characteristic of the specific syndrome. Identification of the underlying causative mutation of these disorders has critical implications in confirming an accurate diagnosis, providing personalized approaches to treatment, and for family genetic counseling.

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:

Fanconi anemia: >95% [PMID: 20417588]
Ataxia-telangiectasia: ~90-97% [PMID: 17910737, 20301790]
Bloom syndrome: ~87-93% [PMID: 17407155]
Nijmegen breakage syndrome: >95% [PMID: 20301355]

Molecular Testing Notes

Chromosomal breakage disorders can be inherited in an autosomal recessive, autosomal dominant, or x-linked manner. The Fanconi Anemia/Rare Chromosomal Breakage Disorders Panel contains 25 genes associated with Fanconi anemia, ataxia-telangiectasia, Bloom syndrome, Lig4 syndrome, Nijmegen breakage syndrome, Radiation sensitive SCID, Roberts syndrome, and Warsaw breakage syndrome. The 25 genes included on this panel are ATM, BLM, BRCA1 (FANCS), BRCA2 (FANCD1), DDX11, ERCC4 (FANCQ), ESCO2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCJ (BRIP1), FANCL, FANCM, LIG4, NBN, NHEJ1, PALB2 (FANCN), RAD51 (FANCR), RAD51C (FANCO), and SLX4 (FANCP).

CPT Codes

81209, 81163, 81242, 81307, 81408, 81479
Collection

Collect

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

Storage/Transport Temperature

Room Temp

Volume Required

3-5 ml

Minimum Required

1.5 mL

Phlebotomy Draw

Yes
Ordering

Methodology

Twenty-five genes known to be associated with chromosome breakage disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 25 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

  • Ataxia-telangiectasia, Bloom syndrome, Lig4 syndrome, Nijmegen breakage syndrome, Radiation sensitive SCID, Roberts syndrome, and Warsaw breakage syndrome
  • FACHP
  • ATM, BLM, BRCA1 (FANCS), BRCA2 (FANCD1), DDX11, ERCC4 (FANCQ), ESCO2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCJ (BRIP1), FANCL, FANCM, LIG4, NBN, NHEJ1, PALB2 (FANCN), RAD51 (FANCR), RAD51C (FANCO), SLX4 (FANCP)

LIS Mnemonic

FACHP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Fanconi Anemia/Rare Chromosomal Breakage Disorders Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with Fanconi Anemia and other chromosome breakage disorders. These are disorders of DNA repair and chromosome maintenance typically associated with multiple congenital and developmental abnormalities, risk of bone marrow failure, and predisposition to malignancy, particularly leukemia and lymphoma.  Many of the conditions identifiable through this panel also have additional clinical features which are characteristic of the specific syndrome. Identification of the underlying causative mutation of these disorders has critical implications in confirming an accurate diagnosis, providing personalized approaches to treatment, and for family genetic counseling.

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:

Fanconi anemia: >95% [PMID: 20417588]
Ataxia-telangiectasia: ~90-97% [PMID: 17910737, 20301790]
Bloom syndrome: ~87-93% [PMID: 17407155]
Nijmegen breakage syndrome: >95% [PMID: 20301355]

Molecular Testing Notes

Chromosomal breakage disorders can be inherited in an autosomal recessive, autosomal dominant, or x-linked manner. The Fanconi Anemia/Rare Chromosomal Breakage Disorders Panel contains 25 genes associated with Fanconi anemia, ataxia-telangiectasia, Bloom syndrome, Lig4 syndrome, Nijmegen breakage syndrome, Radiation sensitive SCID, Roberts syndrome, and Warsaw breakage syndrome. The 25 genes included on this panel are ATM, BLM, BRCA1 (FANCS), BRCA2 (FANCD1), DDX11, ERCC4 (FANCQ), ESCO2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCJ (BRIP1), FANCL, FANCM, LIG4, NBN, NHEJ1, PALB2 (FANCN), RAD51 (FANCR), RAD51C (FANCO), and SLX4 (FANCP).
Result Interpretation
Administrative

CPT Codes

81209, 81163, 81242, 81307, 81408, 81479