Inherited Bone Marrow Failure Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
7359 ABCB7 81479,81479 Order Options and Pricing
ACD 81479,81479
ADA2 81479,81479
AK2 81479,81479
ALAS2 81479,81479
ANKRD26 81479,81479
ATM 81408,81479
ATRX 81479,81479
BLM 81479,81479
BRCA1 and BRCA2 81162
BRIP1 81479,81479
CBL 81479,81479
CDAN1 81479,81479
CEBPA 81218,81479
CHEK2 81479,81479
CLPB 81479,81479
CSF3R 81479,81479
CTC1 81479,81479
CTLA4 81479,81479
CXCR4 81479,81479
DDX41 81479,81479
DKC1 81479,81479
DNAJC21 81479,81479
DNMT3A 81479,81479
EFL1 81479,81479
ELANE 81479,81479
EPCAM 81479,81403
ERCC4 81479,81479
ERCC6L2 81479,81479
ETV6 81479,81479
FANCA 81479,81479
FANCB 81479,81479
FANCC 81479,81479
FANCD2 81479,81479
FANCE 81479,81479
FANCF 81479,81479
FANCG 81479,81479
FANCI 81479,81479
FANCL 81479,81479
FANCM 81479,81479
G6PC3 81479,81479
GATA1 81479,81479
GATA2 81479,81479
GFI1 81479,81479
GLRX5 81479,81479
GP1BA 81479,81479
HAX1 81479,81479
HLTF 81479,81479
HOXA11 81479,81479
IKZF1 81479,81479
ITGA2B 81479,81479
JAK2 81479,81479
KDM1A 81479,81479
KLF1 81479,81479
KRAS 81405,81479
LIG4 81479,81479
MAD2L2 81479,81479
MBD4 81479,81479
MECOM 81479,81479
MLH1 81292,81294
MPIG6B 81479,81479
MPL 81479,81479
MSH2 81295,81297
MSH6 81298,81479
MYH9 81479,81479
MYSM1 81479,81479
NAF1 81479,81479
NBN 81479,81479
NF1 81408,81479
NHP2 81479,81479
NOP10 81479,81479
NPM1 81479,81479
NRAS 81479,81479
PALB2 81307,81479
PARN 81479,81479
PAX5 81479,81479
PIEZO1 81479,81479
PMS2 81317,81319
POT1 81479,81479
PRF1 81479,81479
PTPN11 81406,81479
PTPRJ 81479,81479
PUS1 81479,81479
RAC2 81479,81479
RAD23B 81479,81479
RAD51 81479,81479
RAD51C 81479,81479
RAD51D 81479,81479
RBM8A 81479,81479
RFWD3 81479,81479
RMRP 81479,81479
RPL11 81479,81479
RPL15 81479,81479
RPL26 81479,81479
RPL35A 81479,81479
RPL5 81479,81479
RPS10 81479,81479
RPS17 81479,81479
RPS19 81479,81479
RPS24 81479,81479
RPS26 81479,81479
RPS28 81479,81479
RPS29 81479,81479
RPS7 81479,81479
RTEL1 81479,81479
RUNX1 81479,81479
SAMD14 81479,81479
SAMD9 81479,81479
SAMD9L 81479,81479
SBDS 81479,81479
SBF2 81479,81479
SEC23B 81479,81479
SEPTIN6 81479,81479
SETBP1 81479,81479
SLC19A2 81479,81479
SLC25A38 81479,81479
SLC37A4 81406,81479
SLX4 81479,81479
SRP54 81479,81479
SRP72 81479,81479
STAT3 81479,81479
STIM1 81479,81479
STN1 81479,81479
TAFAZZIN 81406,81479
TCIRG1 81479,81479
TERC 81479,81479
TERT 81479,81479
TET2 81479,81479
TINF2 81479,81479
TP53 81405,81479
TSR2 81479,81479
TUBB1 81479,81479
UBE2T 81479,81479
USB1 81479,81479
VPS45 81479,81479
WAS 81406,81479
WRAP53 81479,81479
XRCC2 81479,81479
ZCCHC8 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7359Genes x (140)81479 81162(x1), 81218(x1), 81292(x1), 81294(x1), 81295(x1), 81297(x1), 81298(x1), 81307(x1), 81317(x1), 81319(x1), 81403(x1), 81405(x2), 81406(x4), 81408(x2), 81479(x258) $1490 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Siwu Peng, PhD

Clinical Features and Genetics of Inherited Bone Marrow Failure

Clinical Features

Bone marrow failure (BMF) can be acquired or inherited and is associated with hematologic abnormalities such as single or multi-lineage cytopenias and increased risk for hematologic malignancies. Inherited bone marrow failure (IBMF) is different from acquired bone marrow failure in that patients with IBMF harbor pathogenic germline variants that can be inherited by future generations. It is important to distinguish inherited from acquired bone marrow failure for proper clinical management of patients and their families. Genetic testing for inherited bone marrow failure syndromes (IBMFS) can help identify possible causes of disease that inform decisions regarding appropriate therapies, potential donors for bone marrow transplant, and potential risk for comorbidities (Furutani and Shimamura. 2017. PubMed ID: 28297620). Genetic testing may also reveal at-risk family members who may benefit from genetic testing and specific surveillance strategies. A recent study identified pathogenic germline variants in 18% of adult patients with hematologic malignancies (DiNardo et al. 2016. PubMed ID: 27210295) while another study found pathogenic variants in 29% of adult patients with Hereditary Myelodysplastic Syndrome / Acute Myeloid Leukemia (Churpek et al. 2015. PubMed ID: 26492932). These studies suggest that pathogenic germline variants may account for a larger fraction of hematologic malignancies than was previously thought.

IBMFS comprise a heterogeneous group of disorders characterized by hematological abnormalities which may or may not be accompanied by other clinical manifestations including physical abnormalities, developmental delay, and solid tumor formation. There is considerable phenotypic overlap among the IBMFS, and determining a proper diagnosis is complicated by the fact that many patients do not have a strong family history of disease nor present classical stigmata or distinguishing physical conditions related to IBMFS. For example, in one study, 8 out of 71 (~11.3%) patients with a clinical diagnosis of idiopathic bone marrow failure or myelodysplastic syndrome were found to harbor pathogenic germline variants in IBMF-related genes (Zhang et al. 2015. PubMed ID: 25239263). However, none of the 8 patients had typical clinical symptoms or laboratory findings consistent with IBMF syndromes, and only 4 patients had a family history of disease (Zhang et al. 2015. PubMed ID: 25239263). In addition, out of the 85 genes sequenced for the 71 patients in Zhang et al., pathogenic variants were found in only 4 genes. In another study, 72 genes were sequenced among a cohort of bone marrow failure patients. In this study, causal variants were found in 59% of patients (in 24 different genes) with known IBMFS such as Fanconi anemia, whereas causal variants were found in 18% of patients (in 13 different genes) with unclassified IBMFS (Ghemlas et al. 2015. PubMed ID: 26136524). In yet another study, a causal or likely causal variant was identified in a 48% of BMF patients in a total of 28 genes (Bluteau et al. 2018. PubMed ID: 29146883). These data suggest that simultaneous genetic testing for a large subset of IBMF-related genes may provide the most efficient approach for establishing an accurate and timely diagnosis.


This panel includes genes that are known to be associated with bone marrow failure disorders and increased risk for hematologic malignancies. IBMFS are inherited in either an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner. This test may help in the differential diagnosis and rule out particular syndromes through simultaneous analysis of many genes associated with inherited bone marrow failure.

Some of the more frequently occurring and well known IBMFS involve genes whose products are associated with DNA repair, telomere maintenance, and ribosomal biogenesis. Therefore, this panel test includes genes associated with Fanconi anemia (Rosenberg et al. 2003. PubMed ID: 12393424), Shwachman Diamond syndrome (Dall’Oca et al. 2012. PubMed ID: 22201042), Diamond Blackfan anemia (Gazda and Sieff. 2006. PubMed ID: 16942586), and dyskeratosis congenita (Kirwan and Dokal. 2008. PubMed ID: 18005359). Highly penetrant germline variants have been identified that can explain up to 95% of Fanconi anemia cases, 95% of Shwachman-Diamond syndrome cases, 50% of Diamond Blackfan anemia cases, and 70% of dyskeratosis congenita cases (Khincha and Savage. 2013. PubMed ID: 24246701).

In addition to these disorders, pathogenic variants in many other genes associated with a wide range of disorders have also been reported in patients with IBMF. This test involves sequence and copy number variant analysis of genes that represent some of the more frequent and well-documented causes of inherited bone marrow failure.

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

The sensitivity of this test varies, though causal or likely causal variants have been identified in up to 48% of patients with suspected IBMF in studies that included analysis of a large number of IBMF-related genes (Bluteau et al. 2018. PubMed ID: 29146883). The sensitivity is reported to increase, up to 59%, when a patient is diagnosed with a known IBMFS (Ghemlas et al. 2015. PubMed ID: 26136524).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.7% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

This test is designed for detecting germline variants and is not designed specifically for detecting low levels of acquired variants associated with bone marrow failure. Skin fibroblasts are the recommended specimen type for germline testing for bone marrow failure disorders (Furutani and Shimamura. 2017. PubMed ID: 28297620; Nickels et al. 2013. PubMed ID: 23926458).

Indications for Test

Patients with a family history of malignancy, cytopenias, congenital anomalies, or features associated with inherited cancer syndromes such as Fanconi anemia, Shwachman Diamond syndrome, Diamond Blackfan anemia, and dyskeratosis congenita.


Official Gene Symbol OMIM ID
ABCB7 300135
ACD 609377
ADA2 607575
AK2 103020
ALAS2 301300
ANKRD26 610855
ATM 607585
ATRX 300032
BLM 604610
BRCA1 113705
BRCA2 600185
BRIP1 605882
CBL 165360
CDAN1 607465
CEBPA 116897
CHEK2 604373
CLPB 616254
CSF3R 138971
CTC1 613129
CTLA4 123890
CXCR4 162643
DDX41 608170
DKC1 300126
DNAJC21 617048
DNMT3A 602769
EFL1 617538
ELANE 130130
EPCAM 185535
ERCC4 133520
ERCC6L2 615667
ETV6 600618
FANCA 607139
FANCB 300515
FANCC 613899
FANCD2 613984
FANCE 613976
FANCF 613897
FANCG 602956
FANCI 611360
FANCL 608111
FANCM 609644
G6PC3 611045
GATA1 305371
GATA2 137295
GFI1 600871
GLRX5 609588
GP1BA 606672
HAX1 605998
HLTF 603257
HOXA11 142958
IKZF1 603023
ITGA2B 607759
JAK2 147796
KDM1A 609132
KLF1 600599
KRAS 190070
LIG4 601837
MAD2L2 604094
MBD4 603574
MECOM 165215
MLH1 120436
MPIG6B 606520
MPL 159530
MSH2 609309
MSH6 600678
MYH9 160775
MYSM1 612176
NAF1 617868
NBN 602667
NF1 613113
NHP2 606470
NOP10 606471
NPM1 164040
NRAS 164790
PALB2 610355
PARN 604212
PAX5 167414
PIEZO1 611184
PMS2 600259
POT1 606478
PRF1 170280
PTPN11 176876
PTPRJ 600925
PUS1 608109
RAC2 602049
RAD23B 600062
RAD51 179617
RAD51C 602774
RAD51D 602954
RBM8A 605313
RFWD3 614151
RMRP 157660
RPL11 604175
RPL15 604174
RPL26 603704
RPL35A 180468
RPL5 603634
RPS10 603632
RPS17 180472
RPS19 603474
RPS24 602412
RPS26 603701
RPS28 603685
RPS29 603633
RPS7 603658
RTEL1 608833
RUNX1 151385
SAMD14 619233
SAMD9 610456
SAMD9L 611170
SBDS 607444
SBF2 607697
SEC23B 610512
SEPTIN6 300683
SETBP1 611060
SLC19A2 603941
SLC25A38 610819
SLC37A4 602671
SLX4 613278
SRP54 604857
SRP72 602122
STAT3 102582
STIM1 605921
STN1 613128
TCIRG1 604592
TERC 602322
TERT 187270
TET2 612839
TINF2 604319
TP53 191170
TSR2 300945
TUBB1 612901
UBE2T 610538
USB1 613276
VPS45 610035
WAS 300392
WRAP53 612661
XRCC2 600375
ZCCHC8 616381
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 2 XL 302060
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
Acute Lymphoblastic Leukemia 613065
Adrenocortical Carcinoma, Hereditary AD 202300
Alpha-Thalassemia Myelodysplasia Syndrome XL 300448
Aml - Acute Myeloid Leukemia 601626
Anauxetic Dysplasia AR 607095
Anemia Sideroblastic And Spinocerebellar Ataxia XL 301310
Anemia, sideroblastic, 3, pyridoxine-refractory AR 616860
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive AR 205950
Aplastic Anemia 609135
Arteriovenous Malformations Of The Brain AD 108010
Ataxia-Pancytopenia Syndrome AD 159550
Ataxia-Telangiectasia Syndrome AR 208900
ATR-X Syndrome XL 301040
Autoimmune Disease, Multisystem, Infantile-Onset, 1 AD 615952
Autoimmune Lymphoproliferative Syndrome, Type V AD 616100
Basal cell carcinoma 7 AD 614740
Bernard Soulier Syndrome AR 231200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant AD 153670
Bladder Cancer 109800
Bleeding disorder, platelet-type, 16, autosomal dominant AD 187800
Blood Group--Lutheran Inhibitor 111150
Bloom Syndrome AR 210900
Bone Marrow Failure Syndrome 1 AD 614675
Bone Marrow Failure Syndrome 2 AR 615715
Bone Marrow Failure Syndrome 3 AR 617052
Bone marrow failure syndrome 4 AR 618116
Bone marrow failure syndrome 5 AD 618165
Breast-Ovarian Cancer, Familial 1 MF 604370
Breast-Ovarian Cancer, Familial 2 AD 612555
Breast-Ovarian Cancer, Familial 3 AD 613399
Breast-Ovarian Cancer, Familial 4 AD 614291
Budd-Chiari Syndrome AD 600880
Cardiofaciocutaneous syndrome 2 AD 615278
Celiac Disease 3 AD 609755
Cerebroretinal Microangiopathy with Calcifications and Cysts AR 612199
Cerebroretinal microangiopathy with calcifications and cysts 2 AR 617341
Charcot-Marie-Tooth Disease, Type 4B2 AR 604563
Choroid Plexus Papilloma AD 260500
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features AD 616728
Complete Trisomy 21 Syndrome 190685
Congenital Amegakaryocytic Thrombocytopenia AR 604498
Cowden syndrome 7 AD 616858
Cyclical Neutropenia AD 162800
Deafness, Autosomal Dominant 17 AD 603622
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency AD 614172
Diabetes Mellitus, Insulin-Dependent, 12 AD 601388
Diamond Blackfan anemia 15 with mandibulofacial dysostosis AD 606164
Diamond-Blackfan Anemia 1 AD 105650
Diamond-Blackfan Anemia 10 AD 613309
Diamond-Blackfan Anemia 11 AD 614900
Diamond-Blackfan Anemia 12 AD 615550
Diamond-Blackfan anemia 13 AD 615909
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis XL 300946
Diamond-Blackfan Anemia 3 AD 610629
Diamond-Blackfan Anemia 4 AD 612527
Diamond-Blackfan Anemia 5 AD 612528
Diamond-Blackfan Anemia 6 AD 612561
Diamond-Blackfan Anemia 7 AD 612562
Diamond-Blackfan Anemia 8 AD 612563
Diamond-Blackfan Anemia 9 AD 613308
Diarrhea 5, With Tufting Enteropathy, Congenital AR 613217
Dyserythropoietic Anemia, Congenital, Type Ia AR 224120
Dyserythropoietic Anemia, Congenital, Type II AR 224100
Dyserythropoietic Anemia, Congenital, Type IV AD 613673
Dyskeratosis Congenita Autosomal Dominant AD 127550
Dyskeratosis Congenita Autosomal Recessive AR 224230
Dyskeratosis Congenita X-Linked XL 305000
Dyskeratosis Congenita, Autosomal Dominant 4 AD 615190
Dyskeratosis congenita, autosomal dominant 6 AD 616553
Dyskeratosis Congenita, Autosomal Dominant, 2 AD 613989
Dyskeratosis Congenita, Autosomal Dominant, 3 AD 613990
Dyskeratosis Congenita, Autosomal Recessive 6 AR 616353
Dyskeratosis Congenita, Autosomal Recessive, 2 AR 613987
Dyskeratosis Congenita, Autosomal Recessive, 3 AR 613988
Endometrial Cancer 608089
Epidermal Nevus 162900
Familial Cancer Of Breast 114480
Familial Colorectal Cancer AD 114500
Familial Erythrocytosis, 1 133100
Familial Non-Hodgkin Lymphoma 605027
Fanconi Anemia, Complementation Group A AR 227650
Fanconi Anemia, Complementation Group B XL 300514
Fanconi Anemia, Complementation Group C AR 227645
Fanconi Anemia, Complementation Group D1 AR 605724
Fanconi Anemia, Complementation Group D2 AR 227646
Fanconi Anemia, Complementation Group E AR 600901
Fanconi Anemia, Complementation Group F AR 603467
Fanconi Anemia, Complementation Group G AR 614082
Fanconi Anemia, Complementation Group I AR 609053
Fanconi Anemia, Complementation Group J AD 609054
Fanconi Anemia, Complementation Group L AR 614083
Fanconi Anemia, Complementation Group N AD 610832
Fanconi Anemia, Complementation Group O AR 613390
Fanconi Anemia, Complementation Group P AR 613951
Fanconi anemia, Complementation Group Q AR 615272
Fanconi Anemia, Complementation Group R AD 617244
Fanconi Anemia, Complementation Group S AR 617883
Fanconi Anemia, Complementation Group T AR 616435
Fanconi Anemia, Complementation Group U AR 617247
Fanconi Anemia, Complementation Group V AR 617243
Fanconi Anemia, Complementation Group W AR 617784
Fetal Hemoglobin Quantitative Trait Locus 6 AD 613566
GATA-1-Related Thrombocytopenia With Dyserythropoiesis XL 300367
Glanzmann's Thrombasthenia AR 273800
Glioma Susceptibility 1 137800
Glioma Susceptibility 3 AR 613029
Glioma Susceptibility 9 AD 616568
Glycogen Storage Disease Type Ib AR 232220
Glycogen Storage Disease Type Ic AR 232240
Hashimoto Thyroiditis AD 140300
Hemophagocytic Lymphohistiocytosis, Familial, 2 AR 603553
Hereditary Diffuse Gastric Cancer AD 137215
Hereditary Nonpolyposis Colorectal Cancer Type 4 AD 614337
Hereditary Nonpolyposis Colorectal Cancer Type 5 AD 614350
Hereditary Nonpolyposis Colorectal Cancer Type 8 613244
Hereditary Sideroblastic Anemia XL 300751
Hyperimmunoglobulin E Syndrome AD 147060
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 AR 612783
Immunodeficiency 75 AR 619126
Immunodeficiency, common variable, 13 AD 616873
Juvenile Myelomonocytic Leukemia 607785
LEOPARD Syndrome AD 151100
Leukemia, acute lymphoblastic, susceptibility to, 3 AD 615545
Li-Fraumeni Syndrome AD 151623
Li-Fraumeni Syndrome 2 AD 609265
Lig4 Syndrome AR 606593
Liver Cancer 114550
Lung Cancer 211980
Lymphedema, Hereditary, III AR 616843
Lymphedema, Primary, With Myelodysplasia AD 614038
Lynch Syndrome I AD 120435
Lynch Syndrome II 609310
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related AD 613112
May-Hegglin Anomaly AD 155100
Medulloblastoma AD 155255
Melanoma, Cutaneous Malignant, 9 AD 615134
Melanoma, Cutaneous Malignant, Susceptibility to, 10 AD 615848
Mental Retardation, Autosomal Dominant 29 AD 616078
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Metachondromatosis AD 156250
Metaphyseal Chondrodysplasia, Mckusick Type AR 250250
Metaphyseal Dysplasia Without Hypotrichosis AR 250460
MIRAGE syndrome AD 617053
Mirror movements 2 AD 614508
Muir-Torre Syndrome AD 158320
Multiple Myeloma 254500
Myelodysplastic Syndrome 614286
Myelofibrosis 254450
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to AD 616871
Myopathy, tubular aggregate AD 160565
Nasopharyngeal Carcinoma 607107
Neurocutaneous melanosis, somatic 249400
Neurofibromatosis, Familial Spinal AD 162210
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis-Noonan Syndrome AD 601321
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults AD 607847
Neutropenia, Severe Congenital, 2, Autosomal Dominant AD 613107
Neutropenia, Severe Congenital, 4, Autosomal Recessive AR 612541
Neutropenia, Severe Congenital, 5, Autosomal Recessive AR 615285
Neutropenia, severe congenital, 7, autosomal recessive AR 617014
Neutropenia, severe congenital, 8, autosomal dominant AD 618752
Neutrophil Immunodeficiency Syndrome 608203
Nijmegen Breakage Syndrome AR 251260
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To AR 258660
Noonan Syndrome 1 AD 163950
Noonan Syndrome 3 AD 609942
Noonan Syndrome 6 AD 613224
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia AD 613563
Oculoectodermal syndrome, somatic AD 600268
Osteopetrosis Autosomal Recessive 1 AR 259700
Osteosarcoma 259500
Pancreatic Cancer AD 260350
Pancreatic Cancer 2 AD 613347
Pancreatic Cancer 3 AD 613348
Pancreatic Cancer 4 AR 614320
Poikiloderma With Neutropenia AR 604173
Polyarteritis nodosa, childhood-onset AR 615688
Polycythemia Vera AD 263300
Premature ovarian failure 15 AR 618096
Prostate Cancer 176807
Protoporphyria, Erythropoietic, X-Linked XL 300752
Pseudo Von Willebrand Disease AD 177820
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 AD 614742
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 AD 614743
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 AD 616373
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 AD 616371
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 AD 618674
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia AD 605432
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 AD 616738
RAS-Associated Autoimmune Leukoproliferative Disorder 614470
Reticular Dysgenesis AR 267500
Revesz Syndrome AD 268130
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schinzel-Giedion Midface Retraction Syndrome AD 269150
Severe Congenital Neutropenia Autosomal Dominant AD 202700
Severe Congenital Neutropenia Autosomal Recessive 3 AR 610738
Severe Congenital Neutropenia X-Linked XL 300299
Shwachman Syndrome AR 260400
Shwachman-Diamond syndrome 2 AR 617941
Sideroblastic Anemia And Mitochondrial Myopathy AR 600462
Sneddon syndrome AR 182410
Spasticity, childhood-onset, with hyperglycinemia AR 616859
Spermatogenic failure 28 AR 618086
Spitz nevus or nevus spilus, somatic 137550
Stormorken syndrome AD 185070
Systemic Lupus Erythematosus AD 152700
Tatton-Brown-Rahman Syndrome AD 615879
Thiamine Responsive Megaloblastic Anemia Syndrome AR 249270
Thrombocythemia 2 AD 601977
Thrombocythemia 3 AD 614521
Thrombocytopenia 2 AD 188000
Thrombocytopenia 5 AD 616216
Thrombocytopenia, anemia, and myelofibrosis AR 617441
Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia AD 601399
Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis XL 314050
Thrombocytopenia, X-Linked XL 313900
Thrombocytopenia-Absent Radius Syndrome AR 274000
Thyroid Cancer, Follicular 188470
Tumoral Calcinosis, Normophosphatemic, Familial AR 610455
Turcot Syndrome AR 276300
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis AD 193670
Watson Syndrome AD 193520
Wilms' Tumor AD 194070
Wiskott-Aldrich Syndrome XL 301000
X-Linked Anemia Without Thromobocytopenia XL 300835
Xerocytosis, Hereditary AD 194380
Xeroderma Pigmentosum, Complementation Group F AR 278760
XFE Progeroid Syndrome AR 610965

Related Test



  • Bluteau et al. 2018. PubMed ID: 29146883
  • Churpek et al. 2015. PubMed ID: 26492932
  • Dall'oca et al. 2012. PubMed ID: 22201042
  • DiNardo et al. 2016. PubMed ID: 27210295
  • Furutani and Shimamura. 2017. PubMed ID: 28297620
  • Gazda and Sieff. 2006. PubMed ID: 16942586
  • Ghemlas et al. 2015. PubMed ID: 26136524
  • Khincha and Savage. 2013. PubMed ID: 24246701
  • Kirwan and Dokal. 2008. PubMed ID: 18005359
  • Nickels et al. 2013. PubMed ID: 23926458
  • Rosenberg et al. 2003. PubMed ID: 12393424
  • Zhang et al. 2015. PubMed ID: 25239263


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

Inherited Bone Marrow Failure Resources

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View Ordering Instructions

1) Select Test Method (Backbone)

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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