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Hereditary Neuroblastoma via the KIF1B Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
KIF1B 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7985KIF1B81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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


  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

Neuroblastoma is the most common type of childhood cancer that occurs before 1 year of age, accounting for 10-15% of cancer deaths in children. Approximately 90% of neuroblastomas are detected by 5 years of age, while 30% are found in the first year of life with the median age of diagnosis of 22 months (Esiashvili et al. Curr Probl Cancer 33:333-60, 2009). This tumor type can occur in adolescence and adulthood, although the prognosis is poorer compared to a childhood incidence (Colon and Chung. Advances in Pediatrics 58:297-311, 2011). The majority of neuroblastomas (65%) arise in the abdomen, with half of these in the medulla of the adrenal gland . They can also occur in the chest (20%), neck (5%), pelvis (5%), and 1% of cases have an unknown primary (Colon and Chung. Advances in Pediatrics 58:297-311, 2011). Symptoms of patients with neuroblastoma include malaise, fevers, weight loss, enlarging mass, pain, and abdominal distention. Other symptoms can include early-onset hypertension and tachycardia due to the secretion of catecholamines. Neuroblastomas commonly occur sporadically in a family, but 1-2% of cases occur with family histories of neuroblastoma. Hereditary neuroblastomas tend to have earlier presentations and lead to multiple primary cancers. They also show significant clinical heterogeneity, whereby a pedigree may show an individual with spontaneous cancer regression, whereas another individual with metastatic spread (Deyell and Attiyeh. Cancer Genetics 204:113-121, 2011). Siblings of an affected patient with neuroblastoma have a 10-fold increase in developing neuroblastoma (Friedman et al. Cancer Epidemiol Biomarkers Prev 14:1922-7, 2005). Neuroblastomas can also be found with other conditions such as Hirschsprung disease, congenital hypoventilation disorder, and neurofibromatosis type 1 (Johnson and Park. GeneReviews, 2012).


Hereditary neuroblastoma is an autosomal dominant disorder that shows incomplete penetrance (Fisher and Tweddle. Seminars in Fetal & Neonatal Medicine 17: 207-215, 2012). Neuroblastomas show whole-chromosome gains and segmental chromosomal aberrations. The former results from hyperdiploidy and has a favorable prognosis, whereas the latter is associated with MYCN amplification and associated with worse outcomes (Colon and Chung. Advances in Pediatrics 58:297-311, 2011). The most frequent genetic aberration is an unbalanced chromosome 17q gain found in 70% of neuroblastomas, which has a poor prognosis (Bown et al. N Engl J Med 340:1954-1961, 1999). In cases of hereditary neuroblastoma the most common etiology are mutations in the anaplastic lymphoma kinase (ALK) oncogene. Another less frequent cause of hereditary neuroblastomas are from PHOX2B mutations, which are often associated with Hirschsprung's disease and/or congenital hypoventilation (Mosse et al. Am J Hum Genet 75:727-730, 2004). Germline mutations in KIF1B from individuals with neuroblastoma and pheochromocytomas, and possibly nonneural tumors, have recently been reported (Schlisio et al. Genes & Development 22:884–893, 2008, 2008; Yeh et al. Hum Genet 124:279-285, 2008). The majority of KIF1B causative mutations are missense changes (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Clinical sensitivity is unknown at this time since relatively few individuals with KIF1B mutations have been reported.

Testing Strategy

This test provides full coverage of all coding exons of the KIF1B gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Hereditary neuroblastoma should be suspected In neonates where there is a family history of neuroblastoma in two or more 1st degree relatives. This test is specifically designed for heritable germline mutations, especially previously tested samples that are ALK and PHOX2B mutation negative, and is not appropriate for the detection of somatic mutations in tumor tissue.


Official Gene Symbol OMIM ID
KIF1B 605995
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Neuroblastoma 1 AD 256700
Pheochromocytoma AD 171300

Related Tests

Hereditary Neuroblastoma via the ALK Gene
Hereditary Neuroblastoma via the PHOX2B Gene
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Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHD Gene
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the TMEM127 Gene
Neuroblastoma Panel
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  • Bown et al. (1999). "Gain of chromosome arm 17q and adverse outcome in patients with neuroblastoma." N Engl J Med 340:1954-1961. PubMed ID: 10379019
  • Colon and Chung. (2011). "Neuroblastoma." Advances in Pediatrics 58:297-311. PubMed ID: 21736987
  • Deyell and Attiyeh. (2011). "Advances in the understanding of constitutional and somatic genomic alterations in neuroblastoma." Cancer Genetics 204:113-121. PubMed ID: 21504710
  • Esiashvili et al. (2009) "Neuroblastoma." Curr Probl Cancer 33:333-60. PubMed ID: 20172369
  • Fisher and Tweddle. (2012). "Neonatal neuroblastoma." Seminars in Fetal & Neonatal Medicine 17: 207-215. PubMed ID: 22673527
  • Friedman et al. (2005). "Increased risk of cancer among siblings of long-term childhood cancer survivors: a report from the childhood cancer survivor study." Cancer Epidemiol Biomarkers Prev 14:1922-7. PubMed ID: 16103438
  • Human Gene Mutation Database (Bio-base).
  • Johnson and Park. (2012). "ALK-Related Neuroblastoma Susceptibility." GeneReviews. PubMed ID: 20301782
  • Mosse et al. (2004). "Germline PHOX2B mutation in hereditary neuroblastoma." Am J Hum Genet 75:727-730. PubMed ID: 15338462
  • Schlisio et al. (2008). "The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor." Genes & Development 22:884–893. PubMed ID: 18334619
  • Yeh et al. (2008). "A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors." Hum Genet 124:279-285. PubMed ID: 18726616


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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