Chain1465: Smith-Lemli-Opitz Syndrome

This is a rare disease.

Example use A

Rare disease screening of newborns or adults thinking of having children. Could also be used as part of a comprehensive analysis of a person's genes.

Developer

Dr. Colby

Genetic info

Genes	Genetic variants
DHCR7	chr11:71155082,chr11:71152446,chr11:71146794,chr11:71146639,chr11:71146886

Qualitative

Type

text

Possible responses

Carrier, Possibly Affected, Not Detected, insufficient data, error

let appChainsManager = AppChains.init(token: "<YOUR TOKEN HERE>" as String, withHostName: "api.sequencing.com")
 
appChainsManager.getReportWithApplicationMethodName("Chain1465", withDatasourceId: "<FILE ID HERE>", withSuccessBlock: { (result) in
            let resultReport: Report = result as Report!
 
            if resultReport.isSucceeded() {   
                if resultReport.getResults() != nil {
                    for item: AnyObject in resultReport.getResults() {
 
                        let resultObj = item as! Result
                        let resultValue: ResultValue = resultObj.getValue()
 
                        if resultValue.getType() == ResultType.Text {
                            print(resultObj.getName() + " = " + (resultValue as! TextResultValue).getData())
                        }
                    }
                }  
            } else {
                print("Error occured while getting genetic information")
            }
 
            }) { (error) in
                print("Error occured while getting genetic information. " + error.localizedDescription)
        }

AppChains *appChains = [[AppChains alloc] initWithToken:@"<YOUR TOKEN HERE>" withHostName:@"api.sequencing.com"];
    
[appChains getReportWithApplicationMethodName:@"Chain1465"
		withDatasourceId:@"<FILE ID HERE>"
		withSuccessBlock:^(Report *result) {

			for (Result *obj in [result getResults]) {
				ResultValue *frv = [obj getValue];
				if ([frv getType] == kResultTypeText) {
					NSLog(@"\nvalue %@ = %@\n", [obj getName], [(TextResultValue *)frv getData]);
				}
			}
        }
        withFailureBlock:^(NSError *error) {
        	NSLog(@"Error occured: %@", [error description]);
        }];

AppChains chains = new AppChains("<YOUR TOKEN HERE>", "api.sequencing.com");
Report result = chains.getReport("StartApp", "Chain1465", "<FILE ID HERE>");
 
if (result.isSucceeded() == false)
    System.out.println("Request has failed");
else
    System.out.println("Request has succeeded");
 
for (Result r : result.getResults())
{
    ResultType type = r.getValue().getType();
 
    if (type == ResultType.TEXT)
    {
        TextResultValue v = (TextResultValue) r.getValue();
        System.out.println(String.format(" -> text result type %s = %s", r.getName(), v.getData()));
    }
}

my $chains = AppChains->new("<YOUR TOKEN HERE>", "api.sequencing.com");
my $chainsResult = $chains->getReport("StartApp", "Chain1465", "<FILE ID HERE>");
 
if ($chainsResult->isSucceeded()) {
    print "Request has succeeded\n";
} else {
    print "Request has failed\n";
}
 
foreach (@{$chainsResult->getResults()})
{
    my $type = $_->getValue()->getType();
 
    if ($type == ResultType->TEXT)
    {
        my $v = $_->getValue();
        print sprintf("-> text result type %s = %s\n", $_->getName(), $v->getData());
    }
}

self.chains = AppChains('<YOUR TOKEN HERE>', 'api.sequencing.com')
chains_result = self.chains.getReport('StartApp', 'Chain1465', '<FILE ID HERE>')
if chains_result.isSucceeded():
    print('Request has succeeded')
    else:
        print('Request has failed')
        for r in chains_result.getResults():
            file_type = r.getValue().getType()
            v = r.getValue()
            if file_type == 'TEXT':
                print('-> text result type {} = {}'.format(
                    r.getName(), v.getData()))

$chains = new AppChains("<YOUR TOKEN HERE>", "api.sequencing.com");
$chainsResult = $chains->getReport("StartApp", "Chain1465", "<FILE ID HERE>");
 
if ($chainsResult->isSucceeded())
    echo "Request has succeeded\n";
else
    echo "Request has failed\n";
 
foreach ($chainsResult->getResults() as $r)
{
    $type = $r->getValue()->getType();
 
    switch ($type)
    {
        case ResultType::TEXT:
            $v = $r->getValue();
            echo sprintf("-> text result type %s = %s\n", $r->getName(), $v->getData());
        break;
    }
}

var chains = new AppChains("<YOUR TOKEN HERE>", "https://api.sequencing.com/v1", "https://beacon.sequencing.com/");
 
Report result = chains.GetReport("Chain1465", "<FILE ID HERE>");
if (result.Succeeded == false)
    Console.WriteLine("Request has failed");
else
    Console.WriteLine("Request has succeeded");
foreach (Result r in result.getResults())
{
    ResultType type = r.getValue().getType();
 
    if (type == ResultType.TEXT)
    {
        var v = (TextResultValue) r.getValue();
        Console.WriteLine(" -> text result type {0} = {1}", r.getName(), v.Data);
    }
}