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Congenital Diaphragmatic Hernia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13359 ALYREF 81479,81479 Order Options and Pricing
ARID1A 81479,81479
ARID1B 81479,81479
BMP4 81479,81479
CDKN1C 81479,81479
CHD7 81407,81479
COL3A1 81479,81479
COX7B 81479,81479
DISP1 81479,81479
DLL3 81479,81479
EFEMP2 81479,81479
EFNB1 81479,81479
FBN1 81408,81479
FGFR2 81479,81479
FRAS1 81479,81479
FREM1 81479,81479
FREM2 81479,81479
GATA4 81479,81479
GATA6 81479,81479
GLI2 81479,81479
GLI3 81479,81479
GPC3 81479,81479
HCCS 81479,81479
HDAC8 81479,81479
HES7 81479,81479
HLX 81479,81479
KDM6A 81479,81479
KIF7 81479,81479
KMT2D 81479,81479
LFNG 81479,81479
LONP1 81479,81479
LRP2 81479,81479
LTBP4 81479,81479
MESP2 81479,81479
MYH10 81479,81479
MYRF 81479,81479
NDST1 81479,81479
NDUFB11 81479,81479
NIPBL 81479,81479
NR2F2 81479,81479
OCRL 81479,81479
PBX1 81479,81479
PIGN 81479,81479
POGZ 81479,81479
PORCN 81479,81479
RAD21 81479,81479
RARB 81479,81479
RIPPLY2 81479,81479
RLIM 81479,81479
ROBO1 81479,81479
SLC2A10 81479,81479
SLIT3 81479,81479
SMARCA4 81479,81479
SMARCB1 81479,81479
SMARCE1 81479,81479
SMC1A 81479,81479
SMC3 81479,81479
SOX11 81479,81479
SOX7 81479,81479
STRA6 81479,81479
TBX6 81479,81479
TSC2 81407,81406
TWIST1 81404,81403
WT1 81405,81479
ZFPM2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13359Genes x (65)81479 81403(x1), 81404(x1), 81405(x1), 81406(x1), 81407(x2), 81408(x1), 81479(x123) $990 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 platform).

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

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


  • Megan Piazza, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Congenital diaphragmatic hernia (CDH) is a relatively common and severe developmental defect of the diaphragm that affects around 1 in 3,000 live births (Pober. 2008. PubMed ID: 18510546; Wang et al. 2011. PubMed ID: 21960515; Wright et al. 2011. PubMed ID: 21281327; Wynn et al. 2014. PubMed ID: 25447988; Burgos and Frenckner. 2017. PubMed ID: 27745705; Shanmugam et al. 2017. PubMed ID: 28925604). It is characterized by incomplete formation of the diaphragm that results in either absence or deficiency of the entire diaphragm or a portion of the diaphragm (Longoni et al. 1993. PubMed ID: 20301533).

CDH may be classified into several types depending on where the herniation occurs. Posterolateral hernias, or Bochdalek hernias, are posterior defects of the diaphragm and comprise ~80-90% of all CDH (Longoni et al. 1993. PubMed ID: 20301533). Due to the location of the hernia these types often include herniation of the stomach, liver, and/or spleen into the chest cavity. Posterolateral hernias may occur on the left side (~85%) or right side (~10%), or may be bilateral (~5%) (Longoni et al. 1993. PubMed ID: 20301533).

Non-posterolateral hernias, or non-Bochdalek hernias, are anterior defects of the diaphragm and comprise ~2% of all CDH (Longoni et al. 1993. PubMed ID: 20301533). These types of hernias may also occur on the left or right side or may be midline defects. Diaphragmatic eventration occurs when there is incomplete muscularization of the diaphragm, which results in a thin membranous sheet of tissue, and is also included within the spectrum of CDH (Wynn et al. 2014. PubMed ID: 25447988).

About 50-60% of CDH cases occur as isolated defects, however ~40-50% are complex cases that are associated with other congenital anomalies (Longoni et al. 1993. PubMed ID: 20301533). These complex cases may be associated with a readily identifiable genetic syndrome or chromosome anomaly; however other complex cases are not attributed to a recognized genetic syndrome. CDH typically presents in the neonatal period with severe respiratory distress, however ~5-10% of affected individuals present after the neonatal period with respiratory or gastrointestinal distress (Longoni et al. 1993. PubMed ID: 20301533).

Additional clinical manifestations may accompany CDH and are often dependent on the severity of the CDH. These additional manifestations may include pulmonary hypertension, failure to thrive, neurodevelopmental complications, musculoskeletal anomalies, and sensorineural hearing loss (Longoni et al. 1993. PubMed ID: 20301533). Of note, ~1% of individuals are asymptomatic and the CDH is discovered incidentally on imaging studies in later childhood or adulthood (Bagłaj and Dorobisz. 2005. PubMed ID: 15778858).

The mortality rates associated with CDH range from 20-60% due to the variation in patient population and data collection techniques (Longoni et al. 1993. PubMed ID: 20301533; Colvin et al. 2005. PubMed ID: 16140678). Different prognostic indicators of CDH may be considered and include whether the CDH is isolated or complex, the size of the defect, the degree of pulmonary hypoplasia, the presence of liver herniation, the severity of the pulmonary hypertension in the perinatal period, and whether the hernia is right-sided, left-sided, or bilateral (Longoni et al. 1993. PubMed ID: 20301533).

Treatment for CDH varies based on the severity of the hernia and if the hernia is isolated or complex. Therapy focuses on respiratory support to prevent additional lung injury, including the use of extracorporeal membrane oxygenation (ECMO). However, the use of ECMO treatment is complex and includes numerous complications (Cairo et al. 2018. PubMed ID: 30080776).

CDH are associated with a group of clinically and genetically heterogeneous disorders; therefore the differential diagnoses are numerous. Genetic testing may aid in determining a diagnosis in ~15-20% of cases, which in turn would provide valuable information on prognosis, management, and recurrence risk (Pober et al. 2005. PubMed ID: 16094667; Pober. 2008. PubMed ID: 18510546; Wynn et al. 2014. PubMed ID: 25447988).


This test includes genes identified through literature, Online Mendelian Inheritance in Man (OMIM), and Human Gene Mutation Database (HGMD) searches that have a reported associated with congenital diaphragmatic hernia.

Congenital diaphragmatic hernias are genetically heterogeneous disorders that may result from chromosome anomalies, a single gene disorder, or a complex disorder resulting from interactions involving multiple genes. Of note, environmental risk factors may also contribute to the development of CDH; however most human cases are unexplained by known environmental factors (Yu et al. 2020. Pubmed ID: 31443905). A great majority of CDH cases, ~80%, are idiopathic (Wynn et al. 2014. PubMed ID: 25447988).

Chromosome anomalies such as complete or mosaic chromosome aneuplodies, large chromosome deletions or duplications, and complex chromosome rearrangements are identified in 10-35% of CDH cases (Wynn et al. 2014. PubMed ID: 25447988). Additionally, smaller structural variants such as microdeletions or microduplications may be identified in ~3.5-13% of CDH cases (Wynn et al. 2014. PubMed ID: 25447988). Chromosome anomalies involving almost every chromosome have been reported in association with CDH (Holder et al. 2007. PubMed ID: 17436238).

Pathogenic variants involving a single or just a few nucleotides have been reported in cases of syndromic and non-syndromic CDH (Longoni et al. 1993. PubMed ID: 20301533; Wynn et al. 2014. PubMed ID: 25447988). These Mendelian forms of CDH may be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL manner), or may arise de novo. CDH has been reported to show incomplete penetrance and variable expressivity in individuals with a heterozygous pathogenic variant in an AD form of CDH (Yu et al. 2013. PubMed ID: 23138528; Longoni et al. 2015. PubMed ID: 24702427).

CDH genes include transcription factors and genes involved in cell migration or formation of the extracellular matrix. However, some genetic causes, particularly structural variants, are not consistently associated with CDH, and this suggests the presence of additional interacting genetic or non-genetic factors (Yu et al. 2020. Pubmed ID: 31443905).

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

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of CDH, the clinical sensitivity of this specific grouping of genes is difficult to estimate. Genetic testing may aid in determining a diagnosis in ~15-20% of cases (Pober et al. 2005. PubMed ID: 16094667; Pober. 2008. PubMed ID: 18510546). Of note, ~80% of CDH cases are idiopathic, which demonstrates the limited understanding of the genetic etiologies of CDH as well as suggests additional non-genetic, non-Mendelian, or multifactorial etiologies for CDH (Wynn et al. 2014. PubMed ID: 25447988).

Large chromosome anomalies including complete or mosaic chromosome aneuploidies, large chromosome deletions or duplications, and complex chromosome rearrangements are identified in 10-35% of CDH cases (Wynn et al. 2014. PubMed ID: 25447988). Additionally, smaller structural variants such as microdeletions or microduplications have been reported in ~3.5-13% of CDH cases (Wynn et al. 2014. PubMed ID: 25447988).

Another study analyzed whole exome sequencing data from individuals with isolated or complex CDH and their unaffected parents (trio analyses) (Longoni et al. 2017. PubMed ID: 28303347). These data were combined with a previous study looking at a similar cohort with the aim of increasing the sample size and power of the study (Yu et al. 2015. PubMed ID: 26034137). Taken together, these studies identified de novo variants that were likely gene disrupting or predicted deleterious missense in 12% of isolated cases of CDH and in 21% of complex cases of CDH (Longoni et al. 2017. PubMed ID: 28303347). Several of the identified genes identified in these studies have also been associated with congenital heart disease or neurodevelopmental conditions.

Testing Strategy

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

This panel typically provides 99.2% 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).

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom panels).

Indications for Test

Candidates for this test include individuals with isolated or complex congenital diaphragmatic hernia, or a family history of congenital diaphragmatic hernia.


Name Inheritance OMIM ID
46,XX sex reversal 5 AD 618901
46XY Sex Reversal 9 AD 616067
Acrocallosal Syndrome, Schinzel Type AR 200990
Acromicric Dysplasia AD 102370
Al-Gazali-Bakalinova syndrome AR 607131
Antley-Bixler Syndrome AD 207410
Apert Syndrome AD 101200
Arterial Tortuosity Syndrome AR 208050
Atrial Septal Defect 2 AD 607941
Atrial septal defect 9 AD 614475
Atrioventricular Septal Defect 4 AD 614430
Atrioventricular septal defect 5 AD 614474
Beckwith-Wiedemann Syndrome AD 130650
Bent bone dysplasia syndrome AD 614592
Bifid Nose With Or Without Anorectal And Renal Anomalies 608980
Cardiac-urogenital syndrome AD 618280
CHARGE Association AD 214800
CODAS syndrome AR 600373
Coffin-Siris Syndrome 1 AD 135900
Coffin-Siris Syndrome 2 AD 614607
Coffin-Siris Syndrome 3 AD 614608
Coffin-Siris Syndrome 4 AD 614609
Coffin-Siris Syndrome 5 AD 616938
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay AD 617641
Congenital heart defects, multiple types, 4 AD 615779
Conotruncal Heart Malformations 217095
Cornelia de Lange syndrome 1 AD 122470
Cornelia de Lange syndrome 2 XL 300590
Cornelia de Lange syndrome 3 AD 610759
Cornelia de Lange syndrome 4 AD 614701
Cornelia de Lange syndrome 5 XL 300882
Craniofrontonasal Dysplasia XL 304110
Craniosynostosis, Type 1 AD 123100
Crouzon Syndrome AD 123500
Cryptophthalmos, unilateral or bilateral, isolated AR 123570
Culler-Jones Syndrome AD 615849
Cutis Gyrata Syndrome Of Beare And Stevenson AD 123790
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities AR 613177
Cutis Laxa, Autosomal Recessive, Type IB AR 614437
Dent Disease 2 XL 300555
Diaphragmatic Hernia 3 610187
Donnai Barrow Syndrome AR 222448
Drash Syndrome AD 194080
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Ehlers-Danlos Syndrome, Type 4 AD 130050
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization AD 618113
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects 301044
Fallot Tetralogy AD 187500
Focal Cortical Dysplasia Of Taylor 607341
Focal Dermal Hypoplasia XL 305600
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Frasier Syndrome AD 136680
Geleophysic Dysplasia 2 AD 614185
Greig Cephalopolysyndactyly Syndrome AD 175700
Holoprosencephaly 9 AD 610829
Hydrolethalus Syndrome 2 AR 614120
Hypothalamic Hamartomas 241800
IMAGE Syndrome AD 614732
Jackson-Weiss Syndrome AD 123150
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 5 AD 612370
Lacrimoauriculodentodigital Syndrome AD 149730
Linear Skin Defects with Multiple Congenital Anomalies 2 XL 300887
Linear skin defects with multiple congenital anomalies 3 XL 300952
Lowe Syndrome XL 309000
Lymphangioleiomyomatosis 606690
Malignant Mesothelioma 156240
Manitoba Oculotrichoanal Syndrome AR 248450
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Mass Syndrome AD 604308
Meacham Syndrome 608978
Meningioma, Familial 607174
Mental Retardation, Autosomal Dominant, 27 AD 615866
Mental Retardation, Autosomal Recessive 46 AR 616116
Mental Retardation, X-linked 61 XL 300978
Microphthalmia Syndromic 6 AD 607932
Microphthalmia Syndromic 7 XL 309801
Microphthalmia Syndromic 9 AR 601186
Microphthalmia, syndromic 12 AR 615524
Mitochondrial complex I deficiency, nuclear type 30 XL 301021
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome AR 614080
Mungan syndrome AR 611376
Neoplasm Of Stomach 613659
Nephrotic syndrome, type 4 AD 256370
Orofacial Cleft 11 600625
Pallister-Hall Syndrome AD 146510
Pancreatic agenesis and congenital heart defects AD 600001
Pfeiffer Syndrome AD 101600
Polydactyly Preaxial Type 4 AD 174700
Polydactyly, Postaxial, Type A1 AD 174200
Polymicrogyria with or without vascular-type EDS AR 618343
Rhabdoid Tumor Predisposition Syndrome 1 609322
Rhabdoid Tumor Predisposition Syndrome 2 AD 613325
Robinow-Sorauf Syndrome AD 180750
Saethre-Chotzen Syndrome AD 101400
Scaphocephaly, Maxillary Retrusion, And Mental Retardation 609579
Schwannomatosis 1 162091
Simpson-Golabi-Behmel Syndrome XL 312870
Spondylocostal Dysostosis 1 AR 277300
Spondylocostal Dysostosis 2 AR 608681
Spondylocostal Dysostosis 3 AR 609813
Spondylocostal Dysostosis 4 AR 613686
Spondylocostal Dysostosis 5 AR 122600
Spondylocostal dysostosis 6 AR 616566
Stiff Skin Syndrome AD 184900
Sweeney-Cox syndrome AD 617746
Testicular Anomalies with or without Congenital Heart Disease AD 615542
Trigonocephaly 2 AD 614485
Tuberous Sclerosis 2 AD 613254
Ventricular Septal Defect 1 AD 614429
Weill-Marchesani Syndrome 2 AD 608328
White-Sutton Syndrome AD 616364
Wilms' Tumor 194070

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Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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